(used for variant description)
(last modified July 28, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_022893.3 in the BCL11A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011968.1, covering BCL11A transcript NM_022893.3.
(upstream sequence)
. . . . g.5048
ttttttttttttttttgcttaaaaaaaagccatgacggctctcccaca c.-181
. . . . . . g.5108
attcatcttccctgcgccatctttgtattatttctaatttattttggatgtcaaaaggca c.-121
. . . . . . g.5168
ctgatgaagatattttctctggagtctccttctttctaacccggctctcccgatgtgaac c.-61
. . . . . . g.5228
cgagccgtcgtccgcccgccgccgccgccgccgccgccgccgcccgccccgcagcccacc c.-1
. . . . . | 02 . g.12203
ATGTCTCGCCGCAAGCAAGGCAAACCCCAGCACTTAAGCAAACGGGAATTCTCGC | CCGAG c.60
M S R R K Q G K P Q H L S K R E F S P | E p.20
. . . . . . g.12263
CCTCTTGAAGCCATTCTTACAGATGATGAACCAGACCACGGCCCGTTGGGAGCTCCAGAA c.120
P L E A I L T D D E P D H G P L G A P E p.40
. . . . . . g.12323
GGGGATCATGACCTCCTCACCTGTGGGCAGTGCCAGATGAACTTCCCATTGGGGGACATT c.180
G D H D L L T C G Q C Q M N F P L G D I p.60
. . . . . . g.12383
CTTATTTTTATCGAGCACAAACGGAAACAATGCAATGGCAGCCTCTGCTTAGAAAAAGCT c.240
L I F I E H K R K Q C N G S L C L E K A p.80
. . . . . . g.12443
GTGGATAAGCCACCTTCCCCTTCACCAATCGAGATGAAAAAAGCATCCAATCCCGTGGAG c.300
V D K P P S P S P I E M K K A S N P V E p.100
. . . . . . g.12503
GTTGGCATCCAGGTCACGCCAGAGGATGACGATTGTTTATCAACGTCATCTAGAGGAATT c.360
V G I Q V T P E D D D C L S T S S R G I p.120
. . | 03 . . . . g.89700
TGCCCCAAACAGGAACACATAGCAG | ATAAACTTCTGCACTGGAGGGGCCTCTCCTCCCCT c.420
C P K Q E H I A D | K L L H W R G L S S P p.140
. . . . . . g.89760
CGTTCTGCACATGGAGCTCTAATCCCCACGCCTGGGATGAGTGCAGAATATGCCCCGCAG c.480
R S A H G A L I P T P G M S A E Y A P Q p.160
| 04. . . . . . g.96127
GGTATTT | GTAAAGATGAGCCCAGCAGCTACACATGTACAACTTGCAAACAGCCATTCACC c.540
G I C | K D E P S S Y T C T T C K Q P F T p.180
. . . . . . g.96187
AGTGCATGGTTTCTCTTGCAACACGCACAGAACACTCATGGATTAAGAATCTACTTAGAA c.600
S A W F L L Q H A Q N T H G L R I Y L E p.200
. . . . . . g.96247
AGCGAACACGGAAGTCCCCTGACCCCGCGGGTTGGTATCCCTTCAGGACTAGGTGCAGAA c.660
S E H G S P L T P R V G I P S G L G A E p.220
. . . . . . g.96307
TGTCCTTCCCAGCCACCTCTCCATGGGATTCATATTGCAGACAATAACCCCTTTAACCTG c.720
C P S Q P P L H G I H I A D N N P F N L p.240
. . . . . . g.96367
CTAAGAATACCAGGATCAGTATCGAGAGAGGCTTCCGGCCTGGCAGAAGGGCGCTTTCCA c.780
L R I P G S V S R E A S G L A E G R F P p.260
. . . . . . g.96427
CCCACTCCCCCCCTGTTTAGTCCACCACCGAGACATCACTTGGACCCCCACCGCATAGAG c.840
P T P P L F S P P P R H H L D P H R I E p.280
. . . . . . g.96487
CGCCTGGGGGCGGAAGAGATGGCCCTGGCCACCCATCACCCGAGTGCCTTTGACAGGGTG c.900
R L G A E E M A L A T H H P S A F D R V p.300
. . . . . . g.96547
CTGCGGTTGAATCCAATGGCTATGGAGCCTCCCGCCATGGATTTCTCTAGGAGACTTAGA c.960
L R L N P M A M E P P A M D F S R R L R p.320
. . . . . . g.96607
GAGCTGGCAGGGAACACGTCTAGCCCACCGCTGTCCCCAGGCCGGCCCAGCCCTATGCAA c.1020
E L A G N T S S P P L S P G R P S P M Q p.340
. . . . . . g.96667
AGGTTACTGCAACCATTCCAGCCAGGTAGCAAGCCGCCCTTCCTGGCGACGCCCCCCCTC c.1080
R L L Q P F Q P G S K P P F L A T P P L p.360
. . . . . . g.96727
CCTCCTCTGCAATCCGCCCCTCCTCCCTCCCAGCCCCCGGTCAAGTCCAAGTCATGCGAG c.1140
P P L Q S A P P P S Q P P V K S K S C E p.380
. . . . . . g.96787
TTCTGCGGCAAGACGTTCAAATTTCAGAGCAACCTGGTGGTGCACCGGCGCAGCCACACG c.1200
F C G K T F K F Q S N L V V H R R S H T p.400
. . . . . . g.96847
GGCGAGAAGCCCTACAAGTGCAACCTGTGCGACCACGCGTGCACCCAGGCCAGCAAGCTG c.1260
G E K P Y K C N L C D H A C T Q A S K L p.420
. . . . . . g.96907
AAGCGCCACATGAAGACGCACATGCACAAATCGTCCCCCATGACGGTCAAGTCCGACGAC c.1320
K R H M K T H M H K S S P M T V K S D D p.440
. . . . . . g.96967
GGTCTCTCCACCGCCAGCTCCCCGGAACCCGGCACCAGCGACTTGGTGGGCAGCGCCAGC c.1380
G L S T A S S P E P G T S D L V G S A S p.460
. . . . . . g.97027
AGCGCGCTCAAGTCCGTGGTGGCCAAGTTCAAGAGCGAGAACGACCCCAACCTGATCCCG c.1440
S A L K S V V A K F K S E N D P N L I P p.480
. . . . . . g.97087
GAGAACGGGGACGAGGAGGAAGAGGAGGACGACGAGGAAGAGGAAGAAGAGGAGGAAGAG c.1500
E N G D E E E E E D D E E E E E E E E E p.500
. . . . . . g.97147
GAGGAGGAGGAGCTGACGGAGAGCGAGAGGGTGGACTACGGCTTCGGGCTGAGCCTGGAG c.1560
E E E E L T E S E R V D Y G F G L S L E p.520
. . . . . . g.97207
GCGGCGCGCCACCACGAGAACAGCTCGCGGGGCGCGGTCGTGGGCGTGGGCGACGAGAGC c.1620
A A R H H E N S S R G A V V G V G D E S p.540
. . . . . . g.97267
CGCGCCCTGCCCGACGTCATGCAGGGCATGGTGCTCAGCTCCATGCAGCACTTCAGCGAG c.1680
R A L P D V M Q G M V L S S M Q H F S E p.560
. . . . . . g.97327
GCCTTCCACCAGGTCCTGGGCGAGAAGCATAAGCGCGGCCACCTGGCCGAGGCCGAGGGC c.1740
A F H Q V L G E K H K R G H L A E A E G p.580
. . . . . . g.97387
CACAGGGACACTTGCGACGAAGACTCGGTGGCCGGCGAGTCGGACCGCATAGACGATGGC c.1800
H R D T C D E D S V A G E S D R I D D G p.600
. . . . . . g.97447
ACTGTTAATGGCCGCGGCTGCTCCCCGGGCGAGTCGGCCTCGGGGGGCCTGTCCAAAAAG c.1860
T V N G R G C S P G E S A S G G L S K K p.620
. . . . . . g.97507
CTGCTGCTGGGCAGCCCCAGCTCGCTGAGCCCCTTCTCTAAGCGCATCAAGCTCGAGAAG c.1920
L L L G S P S S L S P F S K R I K L E K p.640
. . . . . . g.97567
GAGTTCGACCTGCCCCCGGCCGCGATGCCCAACACGGAGAACGTGTACTCGCAGTGGCTC c.1980
E F D L P P A A M P N T E N V Y S Q W L p.660
. . . . . . g.97627
GCCGGCTACGCGGCCTCCAGGCAGCTCAAAGATCCCTTCCTTAGCTTCGGAGACTCCAGA c.2040
A G Y A A S R Q L K D P F L S F G D S R p.680
. . . . . . g.97687
CAATCGCCTTTTGCCTCCTCGTCGGAGCACTCCTCGGAGAACGGGAGTTTGCGCTTCTCC c.2100
Q S P F A S S S E H S S E N G S L R F S p.700
. . . . . . g.97747
ACACCGCCCGGGGAGCTGGACGGAGGGATCTCGGGGCGCAGCGGCACGGGAAGTGGAGGG c.2160
T P P G E L D G G I S G R S G T G S G G p.720
. . . . . . g.97807
AGCACGCCCCATATTAGTGGTCCGGGCCCGGGCAGGCCCAGCTCAAAAGAGGGCAGACGC c.2220
S T P H I S G P G P G R P S S K E G R R p.740
. . . . . . g.97867
AGCGACACTTGTGAGTACTGTGGGAAAGTCTTCAAGAACTGTAGCAATCTCACTGTCCAC c.2280
S D T C E Y C G K V F K N C S N L T V H p.760
. . . . . . g.97927
AGGAGAAGCCACACGGGCGAAAGGCCTTATAAATGCGAGCTGTGCAACTATGCCTGTGCC c.2340
R R S H T G E R P Y K C E L C N Y A C A p.780
. . . . . . g.97987
CAGAGTAGCAAGCTCACCAGGCACATGAAAACGCATGGCCAGGTGGGGAAGGACGTTTAC c.2400
Q S S K L T R H M K T H G Q V G K D V Y p.800
. . . . . . g.98047
AAATGTGAAATTTGTAAGATGCCTTTTAGCGTGTACAGTACCCTGGAGAAACACATGAAA c.2460
K C E I C K M P F S V Y S T L E K H M K p.820
. . . . g.98095
AAATGGCACAGTGATCGAGTGTTGAATAATGATATAAAAACTGAATAG c.2508
K W H S D R V L N N D I K T E X p.835
. . . . . . g.98155
aggtatattaatacccctccctcactcccacctgacaccccctttttcaccactcccctt c.*60
. . . . . . g.98215
ccccatcgccctccagccccactccctgtaggatttttttctagtcccatgtgatttaaa c.*120
. . . . . . g.98275
caaacaaacaaacaaacagaagtaacgaagctaagaatatgagagtgcttgtcaccagca c.*180
. . . . . . g.98335
cacctgttttttttctttttctttttcttttttctttttccttttttttttttttccttt c.*240
. . . . . . g.98395
atgttctcaccgtttgaatgcatgatctgtatggggcaatactattgcattttacgcaaa c.*300
. . . . . . g.98455
ctttgagcctttctcttgtgcaataatttacatgttgtgtatgtttttttttaaacttag c.*360
. . . . . . g.98515
acagcatgtatggtatgttatggctattttaaattgtccctaattcgttgctgagcaaac c.*420
. . . . . . g.98575
atgttgctgtttccagttccgttctgagagaaaaagagagagagagagaaaaagaccatg c.*480
. . . . . . g.98635
ctgcatacattctgtaatacatatcatgtacagttttattttataacgtgaggaggaaaa c.*540
. . . . . . g.98695
acagtctttggattaaccctctatagacagaatagatagcactgaaaaaaaatctctatg c.*600
. . . . . . g.98755
agctaaatgtctgtctctaaagggttaaatgtatcaattggaaaggaagaaaaaaggcct c.*660
. . . . . . g.98815
tgaattgacaaattaacagaaaaacagaacaagtttattctatcatttggttttaaaata c.*720
. . . . . . g.98875
tgagtgccttggatctattaaaaccacatcgatggttctttctacttgttataaacttgt c.*780
. . . . . . g.98935
agcttaattcagcattgggtgaggtaataaaccttaggaactagcatataattctatatt c.*840
. . . . . . g.98995
gtatttctcacaacaatggctacctaaaaagatgacccattatgtcctagttaatcatca c.*900
. . . . . . g.99055
tttttcctttagtttaattttataaacaaaactgattataccagtataaaagctactttg c.*960
. . . . . . g.99115
ctcctggtgagagcttaaaagaaatgggctgttttgcccaaagttttattttttttaaac c.*1020
. . . . . . g.99175
aatgattaaattgaatgtgtaatgtgcaaaagccctggaacgcaattaaatacactagta c.*1080
. . . . . . g.99235
aggagttcattttatgaagatatttgctttaataatgtctttttaaaaatactggcacca c.*1140
. . . . . . g.99295
aaagaaatagatccagatctacttggttgtcaagtggacaatcaaatgataaactttaag c.*1200
. . . . . . g.99355
accttgtataccatattgaaaggaagaggctgacaataaggtttgacagaggggaacaga c.*1260
. . . . . . g.99415
agaaaataatatgatttattagcacaacgtggtactatttgccatttaaaactagaacag c.*1320
. . . . . . g.99475
gtatataagctaatattgatacaatgatgattaactatgaattcttaagacttgcattta c.*1380
. . . . . . g.99535
aatgtgacattcttaaaaaaagaagagaaagaattttaagagtagcagtatatatgtctg c.*1440
. . . . . . g.99595
tgctccctaaaagttgtacttcatttcttttccatacactgtgtgctatttgtgttaaca c.*1500
. . . . . . g.99655
tggaagaggattcattgtttttatttttatttttttaattttttcttttttattaagcta c.*1560
. . . . . . g.99715
gcatctgccccagttggtgttcaaatagcacttgactctgcctgtgatatctgtatcttt c.*1620
. . . . . . g.99775
tctctaatcagagatacagaggttgagtataaaataaacctgctcagataggacaattaa c.*1680
. . . . . . g.99835
gtgcactgtacaattttcccagtttacaggtctatacttaagggaaaagttgcaagaatg c.*1740
. . . . . . g.99895
ctgaaaaaaaattgaacacaatctcattgaggagcattttttaaaaactaaaaaaaaaaa c.*1800
. . . . . . g.99955
aactttgccagccatttacttgactattgagcttacttacttggacgcaacattgcaagc c.*1860
. . . . . . g.100015
gctgtgaatggaaacagaatacacttaacatagaaatgaatgattgctttcgcttctaca c.*1920
. . . . . . g.100075
gtgcaaggatttttttgtacaaaacttttttaaatataaatgttaagaaaaatttttttt c.*1980
. . . . . . g.100135
aaaaaacacttcattatgtttaggggggaactgcattttagggttccattgtcttggtgg c.*2040
. . . . . . g.100195
tgttacaagacttgttatccatttaaaaatggtagtggaaattctatgccttggatacac c.*2100
. . . . . . g.100255
accgctcttcaggttgtaaaaaaaaaaaacatacattggggaaaggtttaagattatata c.*2160
. . . . . . g.100315
gtacttaaatataggaaaatgcacactcatgttgattcctatgctaaaatacatttatgg c.*2220
. . . . . . g.100375
tcttttttctgtatttctagaatggtatttgaattaaatgttcatctagtgttaggcact c.*2280
. . . . . . g.100435
atagtatttatattgaagcttgtatttttaactgttgcttgttctcttaaaaggtatcaa c.*2340
. . . . . . g.100495
tgtaccttttttggtagtggaaaaaaaaaagacaggctgccacagtatatttttttaatt c.*2400
. . . . . . g.100555
tggcaggataatatagtgcaaattatttgtatgcttcaaaaaaaaaaaaaagagagaaac c.*2460
. . . . . . g.100615
aaaaaagtgtgacattacagatgagaagccatataatggcggtttgggggagcctgctag c.*2520
. . . . . . g.100675
aatgtcacatggatggctgtcataggggttgtacatatccttttttgttcctttttcctg c.*2580
. . . . . . g.100735
ctgccatactgtatgcagtactgcaagctaataacgttggtttgttatgtagtgtgcttt c.*2640
. . . . . . g.100795
ttgtccctttccttctatcaccctacattccagcatcttaccttcatatgcagtaaaaga c.*2700
. . . . . . g.100855
aagaaagaaaaaaaaaggaaaaaaaaaaaaaaaccaatgttttgcagtttttttcattgc c.*2760
. . . . . . g.100915
caaaaactaaatggtgctttatatttagattggaaagaatttcatatgcaaagcatatta c.*2820
. . . . . . g.100975
aagagaaagcccgctttagtcaatacttttttgtaaatggcaatgcagaatattttgtta c.*2880
. . . . . . g.101035
ttggccttttctattcctgtaatgaaagctgtttgtcgtaacttgaaattttatctttta c.*2940
. . . . . . g.101095
ctatgggagtcactatttattattgcttatgtgccctgttcaaaacagaggcacttaatt c.*3000
. . . . . . g.101155
tgatcttttatttttctttgtttttatttttttttttatttagatgaccaaaggtcatta c.*3060
. . . . . . g.101215
caacctggctttttattgtatttgtttctggtctttgttaagttctattggaaaaaccac c.*3120
. . . . . . g.101275
tgtctgtgtttttttggcagttgtctgcattaacctgttcatacacccattttgtccctt c.*3180
. . . g.101305
tattgaaaaaataaaaaaaattaaagtaca c.*3210
(downstream sequence)
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