(used for variant description)
(last modified April 16, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_138576.2 in the BCL11B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027894.1, covering BCL11B transcript NM_138576.2.
(upstream sequence)
. . g.5027
ttttcttgcttttcttccctttttttt c.-241
. . . . . . g.5087
ctttttgcaaacaaaacaaaaaacagcatagaagaaagagcaaaataaagaagaagaaga c.-181
. . . . . . g.5147
ggaggaagagagggaaagagaggaagggaaaaaaaacaccaacccgggcagaggaggagg c.-121
. . . . . . g.5207
tgcggcggcggcggcggcggcggcagcggcggcagcggcgcggcggcggctcggaccccc c.-61
. . . . . . g.5267
tcccccggctccccccatcagtgcagctctccgggcgatgccagaatagatgccggggca c.-1
. . . . . | 02 g.18648
ATGTCCCGCCGCAAACAGGGCAACCCGCAGCACTTGTCCCAGAGGGAGCTCATCACCC | CA c.60
M S R R K Q G N P Q H L S Q R E L I T P | p.20
. . . . . . g.18708
GAGGCTGACCATGTGGAGGCCGCCATCCTCGAAGAAGACGAGGGTCTGGAGATAGAGGAG c.120
E A D H V E A A I L E E D E G L E I E E p.40
. . . . . . g.18768
CCAAGTGGCCTGGGGCTGATGGTGGGTGGCCCCGACCCTGACCTGCTCACCTGTGGCCAG c.180
P S G L G L M V G G P D P D L L T C G Q p.60
. . . . . . g.18828
TGTCAAATGAACTTCCCCTTGGGGGACATCCTGGTTTTTATAGAGCACAAAAGGAAGCAG c.240
C Q M N F P L G D I L V F I E H K R K Q p.80
. . . . . . g.18888
TGTGGCGGCAGCTTGGGTGCCTGCTATGACAAGGCCCTGGACAAGGACAGCCCGCCACCC c.300
C G G S L G A C Y D K A L D K D S P P P p.100
. . . . . . g.18948
TCCTCACGCTCCGAGCTCAGGAAAGTGTCCGAGCCGGTGGAGATCGGGATCCAAGTCACC c.360
S S R S E L R K V S E P V E I G I Q V T p.120
. . . . . . g.19008
CCCGACGAAGATGACCACCTGCTCTCACCCACGAAAGGCATCTGTCCCAAGCAGGAGAAC c.420
P D E D D H L L S P T K G I C P K Q E N p.140
| 03. . . . . . g.44981
ATTGCAG | GGCCGTGCAGGCCTGCCCAGCTGCCAGCGGTGGCCCCCATAGCTGCCTCCTCC c.480
I A G | P C R P A Q L P A V A P I A A S S p.160
. . . . . . g.45041
CACCCTCACTCATCCGTGATCACTTCACCTCTGCGTGCCCTGGGCGCTCTCCCGCCCTGC c.540
H P H S S V I T S P L R A L G A L P P C p.180
. . . . . . g.45101
CTCCCCCTGCCGTGCTGCAGCGCGCGCCCGGTCTCGGGTGACGGGACTCAGGGTGAGGGT c.600
L P L P C C S A R P V S G D G T Q G E G p.200
. . . . | 04 . . g.100310
CAGACGGAGGCTCCCTTTGGATGCCAGTGTCAGTTGTCAG | GTAAAGATGAGCCTTCCAGC c.660
Q T E A P F G C Q C Q L S G | K D E P S S p.220
. . . . . . g.100370
TACATTTGCACAACATGCAAGCAGCCCTTCAACAGCGCGTGGTTCCTGCTGCAGCACGCG c.720
Y I C T T C K Q P F N S A W F L L Q H A p.240
. . . . . . g.100430
CAGAACACGCACGGCTTCCGCATCTACCTGGAGCCCGGGCCGGCCAGCAGCTCGCTCACG c.780
Q N T H G F R I Y L E P G P A S S S L T p.260
. . . . . . g.100490
CCGCGGCTCACCATCCCGCCGCCGCTCGGGCCGGAGGCCGTGGCGCAGTCCCCGCTCATG c.840
P R L T I P P P L G P E A V A Q S P L M p.280
. . . . . . g.100550
AATTTCCTGGGCGACAGCAACCCCTTCAACCTGCTGCGCATGACGGGCCCCATCCTGCGG c.900
N F L G D S N P F N L L R M T G P I L R p.300
. . . . . . g.100610
GACCACCCGGGCTTCGGCGAGGGCCGCCTGCCGGGCACGCCGCCTCTCTTCAGTCCCCCG c.960
D H P G F G E G R L P G T P P L F S P P p.320
. . . . . . g.100670
CCGCGCCACCACCTGGACCCGCACCGCCTCAGTGCCGAGGAGATGGGGCTCGTCGCCCAG c.1020
P R H H L D P H R L S A E E M G L V A Q p.340
. . . . . . g.100730
CACCCCAGTGCCTTCGACCGAGTCATGCGCCTGAACCCCATGGCCATCGACTCGCCCGCC c.1080
H P S A F D R V M R L N P M A I D S P A p.360
. . . . . . g.100790
ATGGACTTCTCGCGGCGGCTCCGCGAGCTGGCGGGCAACAGCTCCACGCCGCCGCCCGTG c.1140
M D F S R R L R E L A G N S S T P P P V p.380
. . . . . . g.100850
TCCCCGGGCCGCGGCAACCCTATGCACCGGCTCCTGAACCCCTTCCAGCCCAGCCCCAAG c.1200
S P G R G N P M H R L L N P F Q P S P K p.400
. . . . . . g.100910
TCCCCGTTCCTGAGCACGCCGCCGCTGCCGCCCATGCCCCCTGGCGGCACGCCGCCCCCG c.1260
S P F L S T P P L P P M P P G G T P P P p.420
. . . . . . g.100970
CAGCCGCCAGCCAAGAGCAAGTCGTGCGAGTTCTGCGGCAAGACCTTCAAGTTCCAGAGC c.1320
Q P P A K S K S C E F C G K T F K F Q S p.440
. . . . . . g.101030
AATCTCATCGTGCACCGGCGCAGTCACACGGGCGAGAAGCCCTACAAGTGCCAGCTGTGC c.1380
N L I V H R R S H T G E K P Y K C Q L C p.460
. . . . . . g.101090
GACCACGCGTGCTCGCAGGCCAGCAAGCTCAAGCGCCACATGAAGACGCACATGCACAAG c.1440
D H A C S Q A S K L K R H M K T H M H K p.480
. . . . . . g.101150
GCCGGCTCGCTGGCCGGCCGCTCCGACGACGGGCTCTCGGCCGCCAGCTCCCCCGAGCCC c.1500
A G S L A G R S D D G L S A A S S P E P p.500
. . . . . . g.101210
GGCACCAGCGAGCTGGCGGGCGAGGGCCTCAAGGCGGCCGACGGTGACTTCCGCCACCAC c.1560
G T S E L A G E G L K A A D G D F R H H p.520
. . . . . . g.101270
GAGAGCGACCCGTCGCTGGGCCACGAGCCGGAGGAGGAGGACGAGGAGGAGGAGGAGGAG c.1620
E S D P S L G H E P E E E D E E E E E E p.540
. . . . . . g.101330
GAGGAGGAGCTGCTACTGGAGAACGAGAGCCGGCCCGAGTCGAGCTTCAGCATGGACTCG c.1680
E E E L L L E N E S R P E S S F S M D S p.560
. . . . . . g.101390
GAGCTGAGCCGCAACCGCGAGAACGGCGGTGGTGGGGTGCCCGGGGTCCCGGGCGCGGGG c.1740
E L S R N R E N G G G G V P G V P G A G p.580
. . . . . . g.101450
GGCGGCGCGGCCAAGGCGCTGGCTGACGAGAAGGCGCTGGTGCTGGGCAAGGTCATGGAG c.1800
G G A A K A L A D E K A L V L G K V M E p.600
. . . . . . g.101510
AACGTGGGCCTAGGCGCACTGCCGCAGTACGGCGAGCTCCTGGCCGACAAGCAGAAGCGC c.1860
N V G L G A L P Q Y G E L L A D K Q K R p.620
. . . . . . g.101570
GGCGCCTTCCTGAAGCGTGCGGCGGGCGGCGGGGACGCGGGCGACGACGACGACGCGGGC c.1920
G A F L K R A A G G G D A G D D D D A G p.640
. . . . . . g.101630
GGCTGCGGGGACGCGGGCGCGGGCGGCGCGGTCAACGGGCGCGGGGGCGGCTTCGCGCCA c.1980
G C G D A G A G G A V N G R G G G F A P p.660
. . . . . . g.101690
GGCACCGAGCCCTTCCCCGGGCTCTTCCCGCGCAAGCCCGCGCCGCTGCCCAGCCCCGGG c.2040
G T E P F P G L F P R K P A P L P S P G p.680
. . . . . . g.101750
CTCAACAGCGCCGCCAAGCGCATCAAGGTGGAGAAGGACCTGGAGCTGCCGCCCGCCGCG c.2100
L N S A A K R I K V E K D L E L P P A A p.700
. . . . . . g.101810
CTCATCCCGTCCGAGAACGTGTACTCGCAGTGGCTGGTGGGCTACGCGGCGTCGCGGCAC c.2160
L I P S E N V Y S Q W L V G Y A A S R H p.720
. . . . . . g.101870
TTCATGAAGGACCCCTTCCTGGGCTTCACGGACGCACGACAGTCGCCCTTCGCCACGTCG c.2220
F M K D P F L G F T D A R Q S P F A T S p.740
. . . . . . g.101930
TCCGAGCACTCGTCCGAGAACGGCAGCCTGCGCTTCTCCACGCCGCCCGGGGACCTGCTG c.2280
S E H S S E N G S L R F S T P P G D L L p.760
. . . . . . g.101990
GACGGCGGCCTCTCGGGCCGCAGCGGCACGGCCAGCGGAGGCAGCACCCCGCACCTGGGC c.2340
D G G L S G R S G T A S G G S T P H L G p.780
. . . . . . g.102050
GGCCCGGGCCCCGGGCGGCCCAGCTCCAAGGAGGGCCGCCGCAGCGACACGTGCGAGTAC c.2400
G P G P G R P S S K E G R R S D T C E Y p.800
. . . . . . g.102110
TGCGGCAAGGTGTTCAAGAACTGCAGCAACTTGACGGTGCACCGGCGGAGCCACACCGGC c.2460
C G K V F K N C S N L T V H R R S H T G p.820
. . . . . . g.102170
GAGCGGCCTTACAAGTGCGAGCTGTGCAACTACGCGTGCGCGCAGAGCAGCAAGCTCACG c.2520
E R P Y K C E L C N Y A C A Q S S K L T p.840
. . . . . . g.102230
CGCCACATGAAGACGCACGGGCAGATCGGCAAGGAGGTGTACCGCTGCGACATCTGCCAG c.2580
R H M K T H G Q I G K E V Y R C D I C Q p.860
. . . . . . g.102290
ATGCCCTTCAGCGTCTACAGCACCCTGGAGAAACACATGAAAAAGTGGCACGGCGAGCAC c.2640
M P F S V Y S T L E K H M K K W H G E H p.880
. . . . g.102335
TTGCTGACTAACGACGTCAAAATCGAGCAGGCCGAGAGGAGCTAA c.2685
L L T N D V K I E Q A E R S X p.894
. . . . . . g.102395
gcgcgcgggccccggcgccccgcacctgtacagtggaaccgttgccaaccgagagaatgc c.*60
. . . . . . g.102455
tgacctgacttgcctccgtgtcaccgccaccccgcaccccgcgtgtccccggggcccagg c.*120
. . . . . . g.102515
ggaggcggcactccaacctaacctgtgtctgcgaagtcctatggaaacccgagggttgat c.*180
. . . . . . g.102575
taaggcagtacaaattgtggagccttttaactgtgcaataatttctgtatttattgggtt c.*240
. . . . . . g.102635
ttgtaatttttttggcatgtgcaggtactttttattattattttttctgtttgaattcct c.*300
. . . . . . g.102695
ttaagagattttgttgggtatccatcccttctttgttttttttttaacccggtagtagcc c.*360
. . . . . . g.102755
tgagcaatgactcgcaagcaatgttagaggggaagcatatcttttaaattataatttggg c.*420
. . . . . . g.102815
gggaggggtggtgctgcttttttgaaatttaagctaagcatgtgtaatttcttgtgaaga c.*480
. . . . . . g.102875
agccaacactcaaatgacttttaaagttgtttactttttcattccttccttttttttgtc c.*540
. . . . . . g.102935
ctgaaataaaaagtggcatgcagttttttttttaattattttttaattttttttttggtt c.*600
. . . . . . g.102995
tttgtttttggggtggggggtgtggatgtacagcggataacaatctttcaagtcgtagca c.*660
. . . . . . g.103055
ctttgtttcagaactggaatggagatgtagcactcatgtcgtcccgagtcaagcggcctt c.*720
. . . . . . g.103115
ttctgtgttgatttcggctttcatattacataagggaaaccttgagtggtggtgctgggg c.*780
. . . . . . g.103175
gaggcaccccacagactcagcgccgccagagatagggtttttggagggctcctctgggaa c.*840
. . . . . . g.103235
atggcccgacagcattctgaggttgtgcatgaccagcagatactatcctgttggtgtgcc c.*900
. . . . . . g.103295
ctggggtgccatggctgctattcgctgtagattaggctacataaaatgggctgagggtac c.*960
. . . . . . g.103355
ctttttggggagatggggtggcctgcagtgacacagaaaggaagaaactagcggtgttct c.*1020
. . . . . . g.103415
tttaggcgttttctggcttgacggcttctctctttttttaaatcacccccaccacataaa c.*1080
. . . . . . g.103475
tctcaaatcctatgttgctacaaggggtcatccatcatttcccaagcagacgaatgccct c.*1140
. . . . . . g.103535
aattaattgaagttagtgttctctcatttaatgcacactgatgatattgtagggatgggt c.*1200
. . . . . . g.103595
ggggtggggatcttgcaaatttctattctcttttactgaaaaagcaggggatgagttcca c.*1260
. . . . . . g.103655
tcagaaggtgcccagcgctacttcccaggtttttattttttttttcctatctcattaggt c.*1320
. . . . . . g.103715
tggaaggtactaaatattgaactgttaagattagacatttgaattctgttgacccgcact c.*1380
. . . . . . g.103775
ttaaagcttttgtttgcatttaaattaaatggcttctaaacaagaaattgcagcatattc c.*1440
. . . . . . g.103835
ttctctttggcccagaggtgggttaaactgtaagggacagctgagattgagtgtcagtat c.*1500
. . . . . . g.103895
tgctaagcgtggcattcacaatactggcactataaagaacaaaataaaataataatttat c.*1560
. . . . . . g.103955
aggacagtttttctactgccattcaatttgatgtgagtgccttgaaaactgatcttccta c.*1620
. . . . . . g.104015
tttgagtctcttgagacaaatgcaaaactttttttttgaaatgaaaagactttttaaaaa c.*1680
. . . . . . g.104075
agtaaaacaagaaaagtacattctttagaaactaacaaagccacatttactttaagtaaa c.*1740
. . . . . . g.104135
aaaaaaaaaaattctggttgaagatagaggatatgaaatgccataagacccaatcaaatg c.*1800
. . . . . . g.104195
aagaaataaacccagcacaaccttggacatccattagctgaattatcctcagcccctttt c.*1860
. . . . . . g.104255
gtttttgggacaacgctgcttagatatggagtggaggtgatttactgctgaattaaaact c.*1920
. . . . . . g.104315
caagtgacacaagttacaagttgatatcgttgaatgaaaagcaaaacaaaaacaattcag c.*1980
. . . . . . g.104375
gaacaacggctaattttttctaaagttaaatttagtgcactctgtcttaaaaatacgttt c.*2040
. . . . . . g.104435
acagtattgggtacatacaagggtaaaaaaaaaattgtgtgtatgtgtgttggagcgatc c.*2100
. . . . . . g.104495
tttttttttcaaagtttgcttaataggttatacaaaaatgccacagtggccgcgtgtata c.*2160
. . . . . . g.104555
ttgttttcttttggtgacggggttttagtatatattatatatattaaaatttcttgatta c.*2220
. . . . . . g.104615
ctgtaaaagtggaccagtatttgtaataatcgagaatgcctgggcattttacaaaacaag c.*2280
. . . . . . g.104675
aaaaaaaatacccttttcttttccttgaaaatgttgcagtaaaatttaaatggtgggtct c.*2340
. . . . . . g.104735
ataaatttgttcttgttacagtaactgtaaagtcggagttttagtaaatttttttctgcc c.*2400
. . . . . . g.104795
ttgggtgttgaatttttatttcaaaaaaaatgtatagaaacttgtatttggggattcaaa c.*2460
. . . . . . g.104855
ggggattgctacaccatgtagaaaaagtatgtagaaaaaaagtgcttaatattgttattg c.*2520
. . . . . . g.104915
ctttgcagaaaaaaaaaaaatcacatttctgacctgtacttatttttctcttcccgcctc c.*2580
. . . . . . g.104975
cctctggaatggatatattggttggttcatatgatgtaggcacttgctgtatttttactg c.*2640
. . . . . . g.105035
gagctcgtaattttttaactgtaagcttgtccttttaaagggatttaatgtacctttttg c.*2700
. . . . . . g.105095
ttagtgaatttggaaataaaaagaaaaaaaaaacaaaaacaaacaggctgccataatata c.*2760
. . . . . . g.105155
tttttttaatttggcaggataaaatattgcaaaaaaaacacatttgtatgttaagtccta c.*2820
. . . . . . g.105215
ttgtacaggagaaaaagggttgtttgacaacctttgagaaaaagaaacaaaaggaagtag c.*2880
. . . . . . g.105275
ttaaatgctttggttcacaaatcatttagttgtatatattttttgtcggaattggcctac c.*2940
. . . . . . g.105335
acagagaaccgttcgtgttgggcttctctctgaacgccccgaaccttgcatcaaggctcc c.*3000
. . . . . . g.105395
ttggtgtggccacagcagaccagatgggaaattatttgtgttgagtggaaaaaaatcagt c.*3060
. . . . . . g.105455
ttttgtaaagatgtcagtaacattccacatcgtcctccctttctctaagaggccatctct c.*3120
. . . . . . g.105515
aagatgtcagatgtagaggagagagagcgagagaacatcttccttctctaccatcactcc c.*3180
. . . . . . g.105575
tgtggcggtcaccaccaccacctctcccgcccttaccagcagaaagcaatgcaaactgag c.*3240
. . . . . . g.105635
ctgctttagtccttgagaaattgtgaaacaaacacaaatatcataaaaggagctggtgat c.*3300
. . . . . . g.105695
tcagctgggtccaggtgaagtgacctgctgttgagaccggtacaaattggatttcaggaa c.*3360
. . . . . . g.105755
ggagactccatcacagccaggacctttcgtgccatggagagtgttggcctcttgtctttc c.*3420
. . . . . . g.105815
ttccctgctttgctgctttgctctctgaaacctacattccgtcagtttccgaatgcgagg c.*3480
. . . . . . g.105875
gcctgggatgaatttggtgcctttccatatctcgttctctctccttcccctgcgtttcct c.*3540
. . . . . . g.105935
ctccatccttcatcctccattggtcctttttttttctttcattttttatttaatttcttt c.*3600
. . . . . . g.105995
tcttcctgtctgttcctcccctaatcctctattttatttttattttttgtaaagccaagt c.*3660
. . . . . . g.106055
agctttaagataaagtggtggtcttttggatgagggaataatgcatttttaaataaaata c.*3720
. . . . . . g.106115
ccaatatcaggaagccattttttatttcaggaaatgtaagaaaccattatttcaggttat c.*3780
. . . . . . g.106175
gaaagtataaccaagcatccttttgggcaattccttaccaaatgcagaagcttttctgtt c.*3840
. . . . . . g.106235
cgatgcactctttcctccttgccacttacctttgcaaagttaaaaaaaaggggggaggga c.*3900
. . . . . . g.106295
atgggagagaaagctgagatttcagtttcctactgcagtttcctacctgcagatccaggg c.*3960
. . . . . . g.106355
gctgctgttgcctttggatgccccactgaggtcctagagtgcctccagggtggtcttcct c.*4020
. . . . . . g.106415
gtagtcataacagctagccagtgctcaccagcttaccagattgccaggactaagccatcc c.*4080
. . . . . . g.106475
caaagcacaagcattgtgtgtctctgtgactgcagagaagagagaattttgcttctgttt c.*4140
. . . . . . g.106535
tgtgtttaaaaaaccaacacggaagcagatgatcccgagagagaggcctctagcatgggt c.*4200
. . . . . . g.106595
gacccagccgacctcaggccggtttccgcactgccacaactttgttcaaagttgccccca c.*4260
. . . . . . g.106655
attggaacctgccacttggcattagagggtctttcatggggagagaaggagactgaatta c.*4320
. . . . . . g.106715
ctctaagcaaaatgtgaaaagtaaggaaatcagcctttcatcccggtcctaagtaaccgt c.*4380
. . . . . . g.106775
cagccgaaggtctcgtggaacacaggcaaacccgtgattttggtgctccttgtaactcag c.*4440
. . . . . . g.106835
ccctgcaaagcaaagtcccattgatttaagttgtttgcatttgtactggcaaggcaaaat c.*4500
. . . . . . g.106895
atttttattaccttttctattacttattgtatgagcttttgttgtttacttggaggtttt c.*4560
. . . . . . g.106955
gtcttttactacaagtttggaactatttattattgcttggtatttgtgctctgtttaaga c.*4620
. . . . . . g.107015
aacaggcacttttttttattatggataaaatgttgagatgacaggaggtcatttcaatat c.*4680
. . . . . . g.107075
ggcttagtaaaatatttattgttcctttattctctgtacaagattttgggcctctttttt c.*4740
. . . . . . g.107135
tccttaatgtcacaatgttgagttcagcatgtgtctgccatttcatttgtacgcttgttc c.*4800
. . . . . . g.107195
aaaaccaagtttgttctggtttcaagttataaaaataaattggacatttaacttgatctc c.*4860
g.107199
caaa c.*4864
(downstream sequence)
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