(used for variant description)
(last modified September 5, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001039213.2 in the CEACAM16 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032692.2, covering CEACAM16 transcript NM_001039213.2.
(upstream sequence)
. . g.5026
ctgcatcctcagcgcctagaacagca c.-181
. . . . . . g.5086
cctggcaaacaataggtgctcattcagtatttgtccaataagtgaatgagtgatttactg c.-121
. . . | 02 . . . g.7246
agcatttactctgcgccagtcgtg | gtcctgcggcagacggagccgagccccaaccaggaa c.-61
. . . . . . g.7306
gggagtccgagcactgggacttcaacgccaccatctccaagactcggtttggggtgaaag c.-1
. . . | 03. . . g.9221
ATGGCGCTGACTGGGTACAGCTGGCTGCTCCTCAGTG | CCACATTCCTGAATGTGGGGGCC c.60
M A L T G Y S W L L L S A | T F L N V G A p.20
. . . . . . g.9281
GAGATCTCTATCACCCTGGAGCCTGCCCAGCCGAGCGAAGGGGACAACGTCACGCTGGTC c.120
E I S I T L E P A Q P S E G D N V T L V p.40
. . . . . . g.9341
GTCCATGGGCTTTCGGGGGAACTGCTCGCCTACAGCTGGTATGCGGGGCCCACACTCAGC c.180
V H G L S G E L L A Y S W Y A G P T L S p.60
. . . . . . g.9401
GTGTCATACCTGGTGGCCAGCTACATCGTGAGCACAGGCGATGAGACTCCTGGCCCGGCC c.240
V S Y L V A S Y I V S T G D E T P G P A p.80
. . . . . . g.9461
CACACGGGGCGGGAGGCTGTGCGCCCCGATGGCAGCCTGGACATCCAGGGCATCCTGCCC c.300
H T G R E A V R P D G S L D I Q G I L P p.100
. . . . . . g.9521
CGGCACTCAGGCACCTACATCCTGCAGACCTTCAACAGGCAGTTGCAGACCGAGGTGGGC c.360
R H S G T Y I L Q T F N R Q L Q T E V G p.120
. . | 04 . . . . g.9905
TACGGACACGTGCAGGTCCATG | AGATCCTGGCCCAGCCCACAGTCTTGGCCAACAGCACA c.420
Y G H V Q V H E | I L A Q P T V L A N S T p.140
. . . . . . g.9965
GCGCTGGTGGAACGTCGAGACACCCTGCGCCTTATGTGCAGCAGCCCCAGCCCCACCGCC c.480
A L V E R R D T L R L M C S S P S P T A p.160
. . . . . . g.10025
GAGGTCCGCTGGTTCTTCAACGGTGGGGCCCTGCCCGTCGCTCTCCGCCTGGGCCTGTCC c.540
E V R W F F N G G A L P V A L R L G L S p.180
. . . . . . g.10085
CCTGACGGCCGGGTGCTGGCCAGGCATGGCATCCGCCGGGAGGAGGCCGGCGCCTATCAG c.600
P D G R V L A R H G I R R E E A G A Y Q p.200
. . . . . . g.10145
TGTGAGGTGTGGAACCCGGTCAGTGTCAGCCGCAGCGAGCCCATCAACCTGACCGTGTAC c.660
C E V W N P V S V S R S E P I N L T V Y p.220
| 05 . . . . . . g.11498
T | TTGGCCCAGAGCGTGTGGCCATCCTCCAGGATTCCACCACCCGCACAGGCTGCACCATC c.720
F | G P E R V A I L Q D S T T R T G C T I p.240
. . . . . . g.11558
AAAGTTGACTTCAACACGTCCCTCACCCTGTGGTGCGTGTCCAGGTCCTGCCCAGAGCCC c.780
K V D F N T S L T L W C V S R S C P E P p.260
. . . . . . g.11618
GAGTATGTGTGGACCTTCAACGGGCAGGCCCTAAAGAACGGCCAAGACCACCTCAACATC c.840
E Y V W T F N G Q A L K N G Q D H L N I p.280
. . . . . . g.11678
AGCAGCATGACAGCCGCCCAGGAGGGGACGTACACATGTATTGCGAAGAACACCAAGACC c.900
S S M T A A Q E G T Y T C I A K N T K T p.300
. . . . | 06 . . g.13732
CTGCTATCTGGATCTGCCTCAGTCGTGGTCAAGCTCTCTG | CTGCAGCAGTTGCCACGATG c.960
L L S G S A S V V V K L S A | A A V A T M p.320
. . . . . . g.13792
ATCGTGCCCGTGCCCACCAAGCCAACGGAGGGCCAGGACGTAACACTGACCGTGCAGGGC c.1020
I V P V P T K P T E G Q D V T L T V Q G p.340
. . . . . . g.13852
TACCCCAAGGACCTGCTGGTCTACGCCTGGTACCGCGGGCCTGCCTCCGAGCCCAACCGG c.1080
Y P K D L L V Y A W Y R G P A S E P N R p.360
. . . . . . g.13912
CTGCTCAGCCAGCTGCCGTCAGGAACCTGGATTGCAGGCCCCGCGCACACAGGCCGGGAG c.1140
L L S Q L P S G T W I A G P A H T G R E p.380
. . . . . . g.13972
GTGGGCTTCCCCAACTGCTCGCTGTTGGTGCAGAAGCTGAACCTCACAGACACTGGCCGC c.1200
V G F P N C S L L V Q K L N L T D T G R p.400
. . . . . . g.14032
TACACACTCAAGACCGTCACAGTGCAGGGCAAGACTGAGACACTGGAAGTGGAGCTGCAG c.1260
Y T L K T V T V Q G K T E T L E V E L Q p.420
| 07. g.16400
GTGGCCC | CCCTGGGGTAA c.1278
V A P | L G X p.425
. . . . . . g.16460
cagcgtgaccctggagacgtccagagagaagagctcttcgcaccatcctctggtcctcgc c.*60
. . . . . . g.16520
cctctgagtgggaaccactcccccacagcgaggatgccaggctgtggtcctgctgttctc c.*120
. . . . . . g.16580
ctgcctccaccctagagctagagccacagggccccactccctcgctgagctgttggggag c.*180
. . g.16608
ccaccgaggccataaacgtcctggttaa c.*208
(downstream sequence)
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