(used for variant description)
(last modified November 25, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_005555.3 in the KRT6B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering KRT6B transcript NM_005555.3.(upstream sequence) . . . . g.5048 cgcctccagcctctcacactctcctaagccctctcatctcctggaacc c.-1 . . . . . . g.5108 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.5168 AACTCAGCCAGGCTCCCTGGGGTCAGCCGCTCTGGCTTCAGCAGCATCTCCGTGTCCCGC c.120 N S A R L P G V S R S G F S S I S V S R p.40 . . . . . . g.5228 TCCAGGGGCAGTGGTGGCCTGGGTGGCGCATGTGGAGGAGCTGGCTTTGGCAGCCGCAGT 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.5288 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.5348 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.5408 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.5468 GGCTTTGGGGGCCCTGGCTTCCCTGTGTGCCCCCCTGGAGGCATCCAAGAGGTCACTGTC 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.5528 AACCAGAGTCTCCTGACTCCCCTCAACCTGCAAATTGACCCCGCCATCCAGCGGGTGCGG c.480 N Q S L L T P L N L Q I D P A I Q R V R p.160 . . . . . . g.5588 GCCGAGGAGCGTGAGCAGATCAAGACCCTCAACAACAAGTTTGCCTCCTTCATCGACAAG 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.6566 | GTGCGGTTCCTAGAGCAGCAGAACAAGGTTCTGGACACCAAGTGGACCCTGCTGCAGGAG c.600 | V R F L E Q Q N K V L D T K W T L L Q E p.200 . . . . . . g.6626 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.6686 CTCAGGAGGCAGCTGGACAACATCGTGGGGGAACGGGGTCGTCTGGACTCGGAGCTGAGA c.720 L R R Q L D N I V G E R G R L D S E L R p.240 . . . | 03 . . . g.7079 AACATGCAGGACCTGGTGGAGGACCTCAAGAACAA | ATATGAGGATGAAATCAACAAGCGC c.780 N M Q D L V E D L K N K | Y E D E I N K R p.260 . . . | 04 . . . g.7297 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.7357 AAGGTTGAACTGCAAGCCAAGGCAGACACTCTTACAGATGAGATCAACTTCCTGAGAGCC 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.7541 TTGTATGATGCA | GAGCTGTCCCAGATGCAGACCCACATCTCAGACACATCCGTGGTGCTA 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.7601 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.8162 TATGAGGAGATTGCTCAGAGGAGCAGGGCTGAGGCTGAGTCCTGGTACCAGACAAAG | 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.8222 GAGGAGCTGCAGATCACAGCAGGCAGACATGGGGACGACCTGCGCAACACCAAGCAGGAG c.1140 E E L Q I T A G R H G D D L R N T K Q E p.380 . . . . . . g.8282 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.9185 CAG | TGTGCCAACCTACAGGCCGCCATTGCTGATGCTGAGCAGCGTGGGGAGATGGCCCTC 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.9245 AAGGATGCTAAGAACAAGCTGGAAGGGCTGGAGGATGCCCTGCAGAAGGCCAAGCAGGAC 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.9305 CTGGCCCGGCTGCTGAAGGAGTACCAGGAGCTGATGAACGTCAAGCTGGCCCTGGATGTG 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.9569 GAGATCGCCACCTACCGCAAGCTGCTGGAGGGCGAGGAGTGCAG | 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.9742 GTTGGACAAGTCAACATCT | CTGTAGTGCAGTCCACCGTCTCCAGTGGCTATGGCGGTGCC 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.9802 AGCGGTGTCGGCAGTGGCTTAGGCCTGGGTGGAGGAAGCAGCTACTCCTATGGCAGTGGT 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.9862 CTTGGCGTTGGAGGCGGCTTTAGTTCCAGCAGCGGCAGAGCCACTGGGGGTGGCCTCAGC c.1620 L G V G G G F S S S S G R A T G G G L S p.540 . . . . . . g.9922 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.9937 AGCTACAAGCACTGA c.1695 S Y K H X p.564 . . . . . . g.9997 agtgctgccgccagctctcagtcccacagctctcaggcccctctctggcagcagagccct c.*60 . . . . . . g.10057 ctcctcaggttgcttgtcctcccctggcctccagtctcccctgccctcccgggtagagct c.*120 . . . . . . g.10117 gggatgccctcacttttcttctcatcaatacctgttccactgagctcctgttgcttacca c.*180 . . . . . . g.10177 tcaagtcaacagttatcagcactcagacatgcgaatgtcctttttagttcccgtattatt c.*240 . . . . . . g.10237 acaggtatctgagtctgccataattctgagaagaaaatgacctatatccccataagaact c.*300 . . . . . . g.10297 gaaactcagtctaggtccagctgcagatgaggagtcctctctttaattgctaaccatcct c.*360 . . . . . . g.10357 gcccattatagctacactcaggagttctcatctgacaagtcagttgtcctgatcttctct c.*420 . . . . . . g.10417 tgcagtgtccctgaatggcaagtgatgtaccttctgatgcagtctgcattcctgcactgc c.*480 . . . . . g.10476 tttctctgctctctttgccttcttttgttctgttgaataaagcatattgagaatgtgaa c.*539 (downstream sequence)Legend:
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