(used for variant description)
(last modified December 1, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005557.3 in the KRT16 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008301.1, covering KRT16 transcript NM_005557.3.(upstream sequence) . g.5019 agttaggagggccccgcct c.-121 . . . . . . g.5079 tccccagctgcatataaaggtctctggggttggaggcagccacagcacgctctcagcctt c.-61 . . . . . . g.5139 cctgagcacctttccttctttcagccaactgctcactcgctcacctccctccttggcacc c.-1 . . . . . . g.5199 ATGACCACCTGCAGCCGCCAGTTCACCTCCTCCAGCTCCATGAAGGGCTCCTGCGGCATC c.60 M T T C S R Q F T S S S S M K G S C G I p.20 . . . . . . g.5259 GGAGGCGGCATCGGGGGCGGCTCCAGCCGCATCTCCTCCGTCCTGGCCGGAGGGTCCTGC c.120 G G G I G G G S S R I S S V L A G G S C p.40 . . . . . . g.5319 CGTGCCCCCAGCACCTACGGGGGCGGCCTGTCTGTCTCCTCTCGCTTCTCCTCTGGGGGA c.180 R A P S T Y G G G L S V S S R F S S G G p.60 . . . . . . g.5379 GCCTGCGGGCTGGGGGGCGGCTATGGCGGTGGCTTCAGCAGCAGCAGCAGCTTTGGTAGT c.240 A C G L G G G Y G G G F S S S S S F G S p.80 . . . . . . g.5439 GGCTTCGGGGGAGGATATGGTGGTGGCCTTGGTGCTGGCTTCGGTGGTGGCTTGGGTGCT c.300 G F G G G Y G G G L G A G F G G G L G A p.100 . . . . . . g.5499 GGCTTTGGTGGTGGTTTTGCTGGTGGTGATGGGCTTCTGGTGGGCAGTGAGAAGGTGACC c.360 G F G G G F A G G D G L L V G S E K V T p.120 . . . . . . g.5559 ATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTGCTCTGGAGGAG c.420 M Q N L N D R L A S Y L D K V R A L E E p.140 . . . . . . g.5619 GCCAACGCCGACCTGGAAGTGAAGATCCGTGACTGGTACCAGAGGCAGCGGCCCAGTGAG c.480 A N A D L E V K I R D W Y Q R Q R P S E p.160 . . . . . | 02 . g.6115 ATCAAAGACTACAGTCCCTACTTCAAGACCATCGAGGACCTGAGGAACAAG | ATCATTGCG c.540 I K D Y S P Y F K T I E D L R N K | I I A p.180 . . . . . . g.6175 GCCACCATTGAGAATGCGCAGCCCATTTTGCAGATTGACAATGCCAGGCTGGCAGCCGAT c.600 A T I E N A Q P I L Q I D N A R L A A D p.200 . | 03 . . . . . g.6372 GACTTCAGGACCAA | GTATGAGCATGAACTGGCCCTGCGGCAGACTGTGGAGGCCGACGTC c.660 D F R T K | Y E H E L A L R Q T V E A D V p.220 . . . . . . g.6432 AATGGCCTGCGCCGGGTGTTGGATGAGCTGACCCTGGCCAGGACTGACCTGGAGATGCAG c.720 N G L R R V L D E L T L A R T D L E M Q p.240 . . . . . | 04 . g.6606 ATCGAAGGCCTGAAGGAGGAGCTGGCCTACCTGAGGAAGAACCACGAGGAG | GAGATGCTT c.780 I E G L K E E L A Y L R K N H E E | E M L p.260 . . . . . . g.6666 GCTCTGAGAGGTCAGACCGGCGGAGATGTGAACGTGGAGATGGATGCTGCACCTGGCGTG c.840 A L R G Q T G G D V N V E M D A A P G V p.280 . . . . . . g.6726 GACCTGAGCCGCATCCTGAATGAGATGCGTGACCAGTACGAGCAGATGGCAGAGAAAAAC c.900 D L S R I L N E M R D Q Y E Q M A E K N p.300 . . . | 05 . . . g.6875 CGCAGAGACGCTGAGACCTGGTTCCTGAGCAAG | ACCGAGGAGCTGAACAAAGAAGTGGCC c.960 R R D A E T W F L S K | T E E L N K E V A p.320 . . . . . . g.6935 TCCAACAGCGAACTGGTACAGAGCAGCCGCAGTGAGGTGACGGAGCTCCGGAGGGTGCTC c.1020 S N S E L V Q S S R S E V T E L R R V L p.340 . . . | 06 . . g.7297 CAGGGCCTGGAGATTGAGCTGCAGTCCCAGCTCAGCATG | AAAGCATCCCTGGAGAACAGC c.1080 Q G L E I E L Q S Q L S M | K A S L E N S p.360 . . . . . . g.7357 CTGGAGGAGACCAAAGGCCGCTACTGCATGCAGCTGTCCCAGATCCAGGGACTGATTGGC c.1140 L E E T K G R Y C M Q L S Q I Q G L I G p.380 . . . . . . g.7417 AGTGTGGAGGAGCAGCTGGCCCAGCTACGCTGTGAGATGGAGCAGCAGAGCCAGGAGTAC c.1200 S V E E Q L A Q L R C E M E Q Q S Q E Y p.400 . . . . . . g.7477 CAGATCTTGCTGGATGTGAAGACGCGGCTGGAGCAGGAGATTGCCACCTACCGCCGCCTG c.1260 Q I L L D V K T R L E Q E I A T Y R R L p.420 . . | 07 . . . . g.7631 CTGGAGGGCGAGGATGCCCA | CCTTTCCTCCCAGCAAGCATCTGGCCAATCCTATTCTTCC c.1320 L E G E D A H | L S S Q Q A S G Q S Y S S p.440 | 08. . . . . . g.7851 CGCGAGG | TCTTCACCTCCTCCTCGTCCTCTTCGAGCCGTCAGACCCGGCCCATCCTCAAG c.1380 R E V | F T S S S S S S S R Q T R P I L K p.460 . . . . g.7893 GAGCAGAGCTCATCCAGCTTCAGCCAGGGCCAGAGCTCCTAG c.1422 E Q S S S S F S Q G Q S S X p.473 . . . . . . g.7953 aactgagctgcctctaccacagcctcctgcccaccagctggcctcacctcctgaaggccc c.*60 . . . . . . g.8013 gggtcaggaccctgctctcctggcgcagttcccagctatctcccctgctcctctgctggt c.*120 . . . g.8050 ggtgggctaataaagctgactttctggttgatgcaaa c.*157 (downstream sequence)Legend:
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