(used for variant description)
(last modified November 25, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_005554.3 in the KRT6A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering KRT6A transcript NM_005554.3.
(upstream sequence)
. . g.5029
atatttcatacctttctagaaactgggtg c.-181
. . . . . . g.5089
tgatctcactgttggtaaagcccagcccttcccaacctgcaagctcaccttccaggactg c.-121
. . . . . . g.5149
ggcccagcccatgctctccatatataagctgctgccccgagcctgattcctagtcctgct c.-61
. . . . . . g.5209
tctcttccctctctcctccagcctctcacactctcctcagctctctcatctcctggaacc c.-1
. . . . . . g.5269
ATGGCCAGCACATCCACCACCATCAGGAGCCACAGCAGCAGCCGCCGGGGTTTCAGTGCC c.60
M A S T S T T I R S H S S S R R G F S A p.20
. . . . . . g.5329
AACTCAGCCAGGCTCCCTGGGGTCAGCCGCTCTGGCTTCAGCAGCGTCTCCGTGTCCCGC c.120
N S A R L P G V S R S G F S S V S V S R p.40
. . . . . . g.5389
TCCAGGGGCAGTGGTGGCCTGGGTGGTGCATGTGGAGGAGCTGGCTTTGGCAGCCGCAGT c.180
S R G S G G L G G A C G G A G F G S R S p.60
. . . . . . g.5449
CTGTATGGCCTGGGGGGCTCCAAGAGGATCTCCATTGGAGGGGGCAGCTGTGCCATCAGT c.240
L Y G L G G S K R I S I G G G S C A I S p.80
. . . . . . g.5509
GGCGGCTATGGCAGCAGAGCCGGAGGCAGCTATGGCTTTGGTGGCGCCGGGAGTGGATTT c.300
G G Y G S R A G G S Y G F G G A G S G F p.100
. . . . . . g.5569
GGTTTCGGTGGTGGAGCCGGCATTGGCTTTGGTCTGGGTGGTGGAGCCGGCCTTGCTGGT c.360
G F G G G A G I G F G L G G G A G L A G p.120
. . . . . . g.5629
GGCTTTGGGGGCCCTGGCTTCCCTGTGTGCCCCCCTGGAGGCATCCAAGAGGTCACCGTC c.420
G F G G P G F P V C P P G G I Q E V T V p.140
. . . . . . g.5689
AACCAGAGTCTCCTGACTCCCCTCAACCTGCAAATCGATCCCACCATCCAGCGGGTGCGG c.480
N Q S L L T P L N L Q I D P T I Q R V R p.160
. . . . . . g.5749
GCTGAGGAGCGTGAACAGATCAAGACCCTCAACAACAAGTTTGCCTCCTTCATCGACAAG c.540
A E E R E Q I K T L N N K F A S F I D K p.180
| 02 . . . . . . g.6721
| GTGCGGTTCCTGGAGCAGCAGAACAAGGTTCTGGAAACAAAGTGGACCCTGCTGCAGGAG c.600
| V R F L E Q Q N K V L E T K W T L L Q E p.200
. . . . . . g.6781
CAGGGCACCAAGACTGTGAGGCAGAACCTGGAGCCGTTGTTCGAGCAGTACATCAACAAC c.660
Q G T K T V R Q N L E P L F E Q Y I N N p.220
. . . . . . g.6841
CTCAGGAGGCAGCTGGACAGCATTGTCGGGGAACGGGGCCGCCTGGACTCAGAGCTCAGA c.720
L R R Q L D S I V G E R G R L D S E L R p.240
. . . | 03 . . . g.7250
GGCATGCAGGACCTGGTGGAGGACTTCAAGAACAA | ATATGAGGATGAAATCAACAAGCGC c.780
G M Q D L V E D F K N K | Y E D E I N K R p.260
. . . | 04 . . . g.7468
ACAGCAGCAGAGAATGAATTTGTGACTCTGAAGAAG | GATGTGGATGCTGCCTACATGAAC c.840
T A A E N E F V T L K K | D V D A A Y M N p.280
. . . . . . g.7528
AAGGTTGAACTGCAAGCCAAGGCAGACACTCTCACAGACGAGATCAACTTCCTGAGAGCC c.900
K V E L Q A K A D T L T D E I N F L R A p.300
. | 05 . . . . . g.7712
TTGTATGATGCA | GAGCTGTCCCAGATGCAGACCCACATCTCAGACACATCTGTGGTGCTG c.960
L Y D A | E L S Q M Q T H I S D T S V V L p.320
. . . . . . g.7772
TCCATGGACAACAACCGCAACCTGGACCTGGACAGCATCATCGCTGAGGTCAAGGCCCAA c.1020
S M D N N R N L D L D S I I A E V K A Q p.340
. . . . . | 06. g.8332
TATGAGGAGATTGCTCAGAGAAGCCGGGCTGAGGCTGAGTCCTGGTACCAGACCAAG | TAC c.1080
Y E E I A Q R S R A E A E S W Y Q T K | Y p.360
. . . . . . g.8392
GAGGAGCTGCAGGTCACAGCAGGCAGACATGGGGACGACCTGCGCAACACCAAGCAGGAG c.1140
E E L Q V T A G R H G D D L R N T K Q E p.380
. . . . . . g.8452
ATTGCTGAGATCAACCGCATGATCCAGAGGCTGAGATCTGAGATCGACCACGTCAAGAAG c.1200
I A E I N R M I Q R L R S E I D H V K K p.400
| 07 . . . . . . g.9906
CAG | TGCGCCAACCTGCAGGCCGCCATTGCTGATGCTGAGCAGCGTGGGGAGATGGCCCTC c.1260
Q | C A N L Q A A I A D A E Q R G E M A L p.420
. . . . . . g.9966
AAGGATGCCAAGAACAAGCTGGAAGGGCTGGAGGATGCCCTGCAGAAGGCCAAGCAGGAC c.1320
K D A K N K L E G L E D A L Q K A K Q D p.440
. . . . . . g.10026
CTGGCCCGGCTGCTGAAGGAGTACCAGGAGCTGATGAATGTCAAGCTGGCCCTGGACGTG c.1380
L A R L L K E Y Q E L M N V K L A L D V p.460
. . . . | 08 . . g.10310
GAGATCGCCACCTACCGCAAGCTGCTGGAGGGTGAGGAGTGCAG | GCTGAATGGCGAAGGC c.1440
E I A T Y R K L L E G E E C R | L N G E G p.480
. | 09 . . . . g.10483
GTTGGACAAGTCAACATCT | CTGTGGTGCAGTCCACCGTCTCCAGTGGCTATGGCGGTGCC c.1500
V G Q V N I S | V V Q S T V S S G Y G G A p.500
. . . . . . g.10543
AGTGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCAGTGGT c.1560
S G V G S G L G L G G G S S Y S Y G S G p.520
. . . . . . g.10603
CTTGGCGTTGGAGGTGGCTTCAGTTCCAGCAGTGGCAGAGCCATTGGGGGTGGCCTCAGC c.1620
L G V G G G F S S S S G R A I G G G L S p.540
. . . . . . g.10663
TCTGTTGGAGGCGGCAGTTCCACCATCAAGTACACCACCACCTCCTCCTCCAGCAGGAAG c.1680
S V G G G S S T I K Y T T T S S S S R K p.560
. g.10678
AGCTATAAGCACTAA c.1695
S Y K H X p.564
. . . . . . g.10738
agtgcgtctgctagctctcggtcccacagtcctcaggcccctctctggctgcagagccct c.*60
. . . . . . g.10798
ctcctcaggttgcctttcctctcctggcctccagtctcccctgctgtcccaggtagagct c.*120
. . . . . . g.10858
gggtatggatgcttagtgccctcacttcttctctctctctctataccatctgagcaccca c.*180
. . . . . . g.10918
ttgctcaccatcagatcaacctctgattttacatcatgatgtaatcaccactggagcttc c.*240
. . . . . . g.10978
actgttactaaattattaatttcttgcctccagtgttctatctctgaggctgagcattat c.*300
. . . . . . g.11038
aagaaaatgacctctgctccttttcattgcagaaaattgccaggggcttatttcagaaca c.*360
. . . . . . g.11098
acttccacttactttccactggctctcaaactctctaacttataagtgttgtgaaccccc c.*420
. . . . . . g.11158
acccaggcagtatccatgaaagcacaagtgactagtcctatgatgtacaaagcctgtatc c.*480
. . . . . . g.11218
tctgtgatgatttctgtgctcttcgctgtttgcaattgctaaataaagcagatttataat c.*540
g.11224
acaata c.*546
(downstream sequence)
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