(used for variant description)
(last modified June 21, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_014739.2 in the BCLAF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering BCLAF1 transcript NM_014739.2.
(upstream sequence)
. g.5013
gccccagatcgga c.-241
. . . . . . g.5073
agtgacggagacgtgctagcgcgtcgaaggtagctctatggttttcctcgcgttcttgag c.-181
. . . . . . g.5133
tcgggaaatggccgctgtgtggttgcaacggagataaattcccggaaccgcgattcggcg c.-121
. | 02 . . . . . g.12218
tgtcag | gaattcgaatttagagtttaatttctcagagcattctctccaggaagaattttt c.-61
. . . . . | 03 g.14985
acagtatctcaaagacttcacttgacttcttgatcctgcataaaaccaag | gagaaaagaa c.-1
. . . . . . g.15045
ATGGGTCGCTCCAATTCTAGATCACATTCTTCAAGGTCAAAGTCTAGATCACAGTCTAGT c.60
M G R S N S R S H S S R S K S R S Q S S p.20
. . . . | 04 . . g.16091
TCTCGATCAAGATCAAGATCTCATTCTAGAAAGAAGCGATACAG | TTCTAGGTCTCGTTCC c.120
S R S R S R S H S R K K R Y S | S R S R S p.40
. . . . . . g.16151
AGAACATATTCAAGGTCTCGTAGTAGAGATCGTATGTATTCTAGAGATTATCGTCGCGAT c.180
R T Y S R S R S R D R M Y S R D Y R R D p.60
. . . . . . g.16211
TACAGAAATAATAGAGGAATGAGACGACCTTATGGGTACAGAGGAAGGGGTAGAGGGTAT c.240
Y R N N R G M R R P Y G Y R G R G R G Y p.80
. . . . . . g.16271
TATCAAGGAGGAGGAGGTAGATATCATCGAGGTGGTTATAGACCTGTCTGGAATAGAAGG c.300
Y Q G G G G R Y H R G G Y R P V W N R R p.100
. . . . . . g.16331
CACTCTAGGAGTCCTAGACGAGGTCGTTCACGTTCCAGGAGTCCAAAAAGAAGATCCGTT c.360
H S R S P R R G R S R S R S P K R R S V p.120
. . . . . . g.16391
TCTTCTCAAAGATCCAGAAGCAGATCTCGCCGGTCATATAGATCTTCTAGGTCTCCAAGA c.420
S S Q R S R S R S R R S Y R S S R S P R p.140
. . . . . . g.16451
TCATCCTCTTCTCGTTCTTCATCCCCATATAGCAAATCTCCTGTTTCTAAAAGACGAGGG c.480
S S S S R S S S P Y S K S P V S K R R G p.160
. . . . . . g.16511
TCTCAGGAAAAACAAACCAAAAAAGCTGAAGGGGAACCCCAAGAAGAGAGTCCGTTGAAA c.540
S Q E K Q T K K A E G E P Q E E S P L K p.180
. . . . . . g.16571
AGTAAATCACAGGAGGAACCGAAAGATACATTTGAACATGACCCATCTGAGTCTATCGAT c.600
S K S Q E E P K D T F E H D P S E S I D p.200
. . . . . . g.16631
GAATTTAATAAGTCATCAGCCACATCCGGTGATATTTGGCCTGGCCTTTCAGCTTATGAT c.660
E F N K S S A T S G D I W P G L S A Y D p.220
. . . . . . g.16691
AATAGTCCTAGATCACCCCATAGTCCTTCACCTATTGCTACACCACCTAGTCAGAGTTCA c.720
N S P R S P H S P S P I A T P P S Q S S p.240
. . . . . . g.16751
TCTTGCTCTGATGCTCCCATGCTCAGTACAGTTCACTCTGCAAAAAATACTCCTTCTCAG c.780
S C S D A P M L S T V H S A K N T P S Q p.260
. . . . . . g.16811
CATTCACATTCCATTCAGCATAGTCCTGAAAGGTCTGGGTCTGGTTCTGTTGGAAATGGA c.840
H S H S I Q H S P E R S G S G S V G N G p.280
. . . . . . g.16871
TCTAGTCGATACAGTCCTTCTCAGAATAGTCCAATTCATCACATCCCTTCACGAAGAAGT c.900
S S R Y S P S Q N S P I H H I P S R R S p.300
. . . . . . g.16931
CCTGCAAAGACAATCGCACCACAGAATGCTCCAAGAGATGAGTCTAGGGGCCGTTCCTCG c.960
P A K T I A P Q N A P R D E S R G R S S p.320
. . . . . | 05 . g.18347
TTTTATCCTGATGGTGGAGATCAGGAAACTGCAAAGACTGGGAAGTTCTTAAAAAG | GTTC c.1020
F Y P D G G D Q E T A K T G K F L K R | F p.340
. . . . . . g.18407
ACAGATGAAGAGTCTAGAGTATTCCTGCTTGATAGGGGTAATACCAGGGATAAAGAGGCT c.1080
T D E E S R V F L L D R G N T R D K E A p.360
. . . . . . g.18467
TCAAAAGAGAAAGGATCAGAGAAAGGGAGGGCAGAGGGAGAATGGGAAGATCAGGAAGCT c.1140
S K E K G S E K G R A E G E W E D Q E A p.380
. . . . . . g.18527
CTAGATTACTTCAGTGATAAAGAGTCTGGAAAACAAAAGTTTAATGATTCAGAAGGGGAT c.1200
L D Y F S D K E S G K Q K F N D S E G D p.400
. . . . . . g.18587
GACACAGAGGAGACAGAGGATTATAGACAGTTCAGGAAGTCAGTCCTCGCAGATCAGGGT c.1260
D T E E T E D Y R Q F R K S V L A D Q G p.420
. . . . . . g.18647
AAAAGTTTTGCTACTGCATCTCACCGGAATACTGAGGAGGAAGGACTCAAGTACAAGTCC c.1320
K S F A T A S H R N T E E E G L K Y K S p.440
. . . . . . g.18707
AAAGTTTCACTGAAAGGCAATAGAGAAAGTGATGGATTTAGAGAAGAAAAAAATTATAAA c.1380
K V S L K G N R E S D G F R E E K N Y K p.460
. . . . . . g.18767
CTTAAAGAGACTGGATATGTAGTGGAAAGGCCTAGCACTACAAAAGATAAGCACAAAGAA c.1440
L K E T G Y V V E R P S T T K D K H K E p.480
. . . . . . g.18827
GAAGACAAAAATTCTGAAAGAATAACAGTAAAGAAAGAAACTCAGTCACCTGAGCAGGTA c.1500
E D K N S E R I T V K K E T Q S P E Q V p.500
. . . . . . g.18887
AAGTCTGAAAAGCTCAAAGACCTCTTTGATTACAGTCCCCCTCTACACAAGAATCTGGAT c.1560
K S E K L K D L F D Y S P P L H K N L D p.520
. . . . . . g.18947
GCACGAGAAAAGTCTACCTTCAGAGAGGAAAGCCCACTTAGGATCAAAATGATAGCGAGT c.1620
A R E K S T F R E E S P L R I K M I A S p.540
. . . . . . g.19007
GATTCTCACCGTCCTGAAGTCAAACTCAAAATGGCACCTGTTCCTCTTGATGATTCTAAC c.1680
D S H R P E V K L K M A P V P L D D S N p.560
| 06 . . . . . . g.19208
AG | ACCTGCTTCCTTGACTAAAGACAGGCTGCTTGCTAGTACACTTGTCCATTCTGTCAAG c.1740
R | P A S L T K D R L L A S T L V H S V K p.580
. . . . . . g.19268
AAGGAGCAAGAATTCCGATCCATCTTTGACCACATTAAGTTGCCACAGGCCAGCAAAAGC c.1800
K E Q E F R S I F D H I K L P Q A S K S p.600
. . . . . | 07 . g.21672
ACTTCAGAGTCATTTATTCAACACATTGTGTCCTTGGTTCATCATGTTAAAG | AGCAATAC c.1860
T S E S F I Q H I V S L V H H V K E | Q Y p.620
. . . . . . g.21732
TTCAAGTCAGCTGCAATGACCCTAAACGAGCGGTTCACTTCGTATCAGAAAGCCACTGAA c.1920
F K S A A M T L N E R F T S Y Q K A T E p.640
. . . | 08 . . g.22794
GAACATAGTACTCGGCAAAAGAGCCCTGAAATACACAG | GAGAATTGACATCTCACCAAGT c.1980
E H S T R Q K S P E I H R | R I D I S P S p.660
. . . . . . g.22854
ACCCTGAGGAAGCATACCCGTTTAGCAGGGGAAGAGAGAGTTTTTAAAGAAGAAAATCAA c.2040
T L R K H T R L A G E E R V F K E E N Q p.680
| 09 . . . . . . g.25296
AAG | GGAGATAAAAAATTAAGGTGTGACTCTGCTGACCTTCGGCATGACATTGATCGCCGT c.2100
K | G D K K L R C D S A D L R H D I D R R p.700
. . . . . . g.25356
AGAAAAGAAAGAAGTAAAGAACGGGGAGATTCCAAGGGCTCCAGGGAATCCAGTGGATCA c.2160
R K E R S K E R G D S K G S R E S S G S p.720
. . . . . | 10 g.26513
AGAAAGCAGGAAAAAACTCCAAAAGATTACAAGGAATACAAATCTTACAAAGATGACAG | T c.2220
R K Q E K T P K D Y K E Y K S Y K D D S | p.740
. . . . . . g.26573
AAACATAAAAGAGAGCAAGATCATTCTCGATCTTCATCCTCTTCAGCATCACCTTCTTCT c.2280
K H K R E Q D H S R S S S S S A S P S S p.760
. . . . . . g.26633
CCCAGTTCTCGAGAAGAAAAGGAGAGTAAGAAGGAAAGAGAAGAAGAATTTAAAACTCAC c.2340
P S S R E E K E S K K E R E E E F K T H p.780
. . . . . | 11. g.27679
CATGAAATGAAAGAATACTCAGGCTTTGCAGGAGTTAGCCGACCACGAGGAACCTTT | TTT c.2400
H E M K E Y S G F A G V S R P R G T F | F p.800
. . . . . . g.27739
CGAATTAGAGGCAGAGGAAGAGCCAGAGGAGTTTTTGCTGGGACAAATACTGGTCCAAAC c.2460
R I R G R G R A R G V F A G T N T G P N p.820
. . . . . . g.27799
AACTCAAATACTACTTTTCAAAAGAGACCGAAGGAAGAGGAATGGGATCCAGAATATACC c.2520
N S N T T F Q K R P K E E E W D P E Y T p.840
. . | 12 . . . . g.33410
CCAAAGAGCAAGAAGTACTTCTTG | CATGACGACAGAGATGATGGTGTGGATTATTGGGCC c.2580
P K S K K Y F L | H D D R D D G V D Y W A p.860
. . . . . . g.33470
AAAAGAGGAAGAGGTCGTGGTACTTTTCAACGTGGCAGAGGGCGCTTTAACTTCAAAAAA c.2640
K R G R G R G T F Q R G R G R F N F K K p.880
. . . . . . g.33530
TCAGGTAGCAGTCCTAAATGGACTCATGACAAATACCAAGGGGATGGGATTGTTGAAGAT c.2700
S G S S P K W T H D K Y Q G D G I V E D p.900
. . . . . | 13. g.33739
GAAGAAGAGACCATGGAAAATAATGAAGAAAAGAAGGACAGACGCAAGGAAGAAAAG | GAA c.2760
E E E T M E N N E E K K D R R K E E K | E p.920
g.33742
TAA c.2763
X p.920
. . . . . . g.33802
taaatatgaagtaagattacaacagagcagaacttgcacccaccattttttttacctgat c.*60
. . . . . . g.33862
ttttgttttcaaataagaatgtaagcattttacttaaattttactgtttgcaagtagtct c.*120
. . . . . . g.33922
atagaaattttgttttaagtcttcaaatatcttgagaaatagtagactgtatgttgaaaa c.*180
. . . . . . g.33982
ttgtactgaaataaagtagaaaattgttacgtaccatatttgtaactatcaacttttaaa c.*240
. . . . . . g.34042
acttttaacgtttttgttacatgcattgtaattctgctttgtctataagatatggtcaag c.*300
. . . . . . g.34102
tacagctctgtgaaagttctgattctcttccttccctgtttgtcaatgttttattctgaa c.*360
. . . . . . g.34162
gtaaacgttagctctacatataaatcctggaacagaaattgtttatagagactacactaa c.*420
. . . . . . g.34222
ttattttaactgtatacatctgtttaatttgaacacactacatcgtagggtgactgattt c.*480
. . . . . . g.34282
ttgaagtataccacagacaaaaagttgttactatggtaaactaagctagtttaacacttg c.*540
. . . . . . g.34342
agcaaatgcttaagaaggaattaaaaaaaaaaagctttgccaatagctaaaaagtacaag c.*600
. . . . . . g.34402
ctattaaaaatcagattgaaaagttttgagaaaatgttatttttactgaaagcaagcagt c.*660
. . . . . . g.34462
ggcctataaagaacattcttaggagccttttctatttgcgttcaaaactgtgtgttctct c.*720
. . . . . . g.34522
ttctattcctatttgatagtttgagtcatggtcttagatattagctatttgtgagaggaa c.*780
. . . . . . g.34582
actggtttgtaacaatactgcaaatagaaaccccatttctactgaacatcctagttttaa c.*840
. . . . . . g.34642
acagaagaaaaactgtaatcctggggttggtatgtaggaggtctatcctgcagaataagt c.*900
. . . . . . g.34702
tgatacattagtacctgatttcatatcttacatatttatttgagctgaacattagtttgt c.*960
. . . . . . g.34762
agtgtaactattagtaaaaatagagaaacacagcatactgttcattaatagtattttaaa c.*1020
. . . . . . g.34822
aaaattgtttttcaaatgtcaccaataaaagttttggcaggaagcttgttgcggcattga c.*1080
. . . . . . g.34882
tctaacctttttcccccccatttcagttgcagtttttgtagaatggctttttctttttcc c.*1140
. . . . . . g.34942
tcttaagagttctattcttcaggtagataatttttcaaatgtgaattatcttttgtgtct c.*1200
. . . . . . g.35002
atattgatagctcttaaaggagtgaaaatctaaaatagtaaatttcaatgttaagtgtct c.*1260
. . . . . . g.35062
gctttatgggcatatataaaagtagacacatttcatttgttaatttagttgtgtgtgtgt c.*1320
. . . . . . g.35122
gttaaaaggagctaatgcttattctgttaatgtaaacttttgaagatcttaagtgtattg c.*1380
. . . . . . g.35182
ctctttcatcttaaacactttcgaggatttgcagtgcgtctagcacctagattacagcca c.*1440
. . . . . . g.35242
ggaacattggttaagaactgttggaaacaaaactaaaagcaaactcaacatatgtgatgt c.*1500
. . . . . . g.35302
ttatggccctcagatccttagtattgtgtgattttcccccgttaacatgtctttctaaaa c.*1560
. . . . . . g.35362
ttgtctattaaagcagaggaaatacctgccaaaggaagtatgtattgcattaatcagggc c.*1620
. . . . . . g.35422
ataactaatattctcctgttcagaataatacttatttacgtgtgaaagcaacatggatgt c.*1680
. . . . . . g.35482
gattcccaacacagaattttcatgacccttttattgtatacaaataaataccataacagt c.*1740
. . . . . . g.35542
tacttggttagacatcaaatctgtgtgcatgactatgtgcttatccacttaagacaatag c.*1800
. . . . . . g.35602
gtaaaaggggatctgagaaattatgtaatagggagtgggaataaaactacttaattcctg c.*1860
. . . . . . g.35662
tgggcaggttatattttaagttcaaatgcattgctttaacctttggttacttttattctg c.*1920
. . . . . . g.35722
ttaaacagaattgaagaaagagtattataccagagtgtagtaggctagggtgattgtaag c.*1980
. . . . . . g.35782
aactctgtaatagaatgtcattgtggatgttacctttttcagatccaagcatataaaaag c.*2040
. . . . . . g.35842
cctgtatattttttaaaaacacatcttaactccacgctttacgatattataaaagttgaa c.*2100
. . . . . . g.35902
tggttcctcttggtaaggatatttgcttacaagtgctaggaaataactcactgatacctg c.*2160
. . . . . . g.35962
cgttaacatactttgttttgcctagagaggggcaataaaaatgaaccaaaggatatttcc c.*2220
. . . . . . g.36022
agaaaggattaagaaagctgtttaagaaggccatgactctttaggtgtgtatgtgtacct c.*2280
. . . . . . g.36082
ttcagcatcctaggaatttttatactaaaagcaaaatgttttttccagttagtcttcttc c.*2340
. . . . . . g.36142
aaggaattactattgttccttttgtcacaggtaaaatcagtgttgggaattataatttga c.*2400
. . . . . . g.36202
gaaaaatattacccagtaacattgaatgtagatggctaaacgattcttactcagtgtgat c.*2460
. . . . . . g.36262
gtataatgatgcaacagggacccttgtaaattgtcatacgccaataaaatgtcacaagta c.*2520
. . . . . . g.36322
ataactgctgttgtttgtttacctgtgtctatttcacacatcttatttctgtggcctatt c.*2580
. . . . . . g.36382
ttagaatatcagcgcatctgttaggaagattactggtgtggtaaggcttgataaatgctt c.*2640
. . . . . . g.36442
tataaactccctcaaacctttctttactgtttttttgttttgtcttgtttttgtttttgt c.*2700
. . . . . . g.36502
ttttgtttttgtttttgtttttgtttttcccttgtctcccctgggaaaatgggaaatttt c.*2760
. . . . . . g.36562
acagttggtaaatctaagccaaaattattttgaaataaaggaattctggatgtccagttt c.*2820
. . . . . . g.36622
agtcctcgttttcttacgttaatctgggaccttatcacccataatatggtgattacttct c.*2880
. . . . . . g.36682
ctttctaaaaacatagtagctagtaaataagtaaaaagaattgtcttttcattcacttta c.*2940
. . . . . . g.36742
agtaagatgtggtataattcttaccatgtgccatcctgtcagttttaacaaagcattttc c.*3000
. . . . . . g.36802
acagaaatttgtgtactaagacaaactgacacattttgactcatacaaatggcaaattag c.*3060
. . . . . . g.36862
tccttaaaaattctgtgagagaaataactctgtgtgtacatacatatgcatgtaaagtgt c.*3120
. . . . . . g.36922
tgtgtaagatcattggtagcttaattatactggataattgtaatgttatatacaaatttc c.*3180
. . . . . . g.36982
ttatataaaagtatgctgcattattaacatttgtttaacttttcttatttttctttttct c.*3240
. . . . . . g.37042
gggtttcaactggaatcccattggtggggatgtaccttaagtttccttgtggaataatag c.*3300
. . . . . . g.37102
actttcacatccagaaagagaagttcagaggcctttctcaatttacagagttgaagagga c.*3360
. . . . . . g.37162
aaggcaaatggaggaataaacttcattgtcattgggattaatttggctagactcaatctc c.*3420
. . . . . . g.37222
ttgagccttaaaatgagaaagtaatatccattacatgtttagagttctcaaatagttgat c.*3480
. . . . . . g.37282
actattattaaatgtttcaaattttattggggtagatactaaaaattagtacactgtcct c.*3540
. . . . . . g.37342
aatgaagtttaaatgaacaagttttacatttcttaggattcaggaatatatggaatctag c.*3600
. . . . . . g.37402
ttgtatttaattgacttgagagccacagagattgtgttgatttatgagctggactcctat c.*3660
. . . . . . g.37462
tgttttagaaacatgcagtaatgattaacttgtgtcaatgatggtaatgagaccaaactt c.*3720
. . . . . . g.37522
gtacatttaattaagggtaccagttctttttatgttactagactataccttggcctttaa c.*3780
. . . . . . g.37582
aaatgaatctcactgattaaagagaacaggcattattaggatagcattccaccacaacta c.*3840
. . . . . . g.37642
gaaacattcaaataatgtgtcttaattgtaatctgtatataggaaaatttttcctatgga c.*3900
. . . . . . g.37702
tatttttggtgttttaccacagtgaactgatttgtagcacttatgaagtgcagaaggtaa c.*3960
. . . . . . g.37762
tattcttgaaaatagaaaaaggttgggtgagcaggctttaatgcctttcccccaagaata c.*4020
. . . . . . g.37822
tacatcgaatttttcttaatcttttggggttggccagcttccagatttcattaataatga c.*4080
. . . . . . g.37882
gctctgcctttaataaaagtacatgatcatagctacactgtatgtttaggtggtgtgaaa c.*4140
. . . . . . g.37942
tgatttataatcacagcttgaactgtgtttgcttggtactgtcatagtgattacaaattt c.*4200
. . . . g.37989
catggaatgcgaagagcaacaataaataaaaaataccactcaccctc c.*4247
(downstream sequence)
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