Canonical Allele Identifier: CA1647454
Gene: TTC7A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46995152dup , CM000664.2:g.46995152dup GRCh38
NC_000002.11:g.47222291dup , CM000664.1:g.47222291dup GRCh37
NC_000002.10:g.47075795dup NCBI36
NG_034143.1:g.84024dup
NG_034143.2:g.84024dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000698500.1:n.2851dup
ENST00000319190.11:c.1018dup MANE Select ENSP00000316699.5:p.Asp340GlyfsTer?
ENST00000319190.9:c.1018dup ENSP00000316699.5:p.Asp340GlyfsTer?
ENST00000394850.6:c.1018dup ENSP00000378320.2:p.Asp340GlyfsTer?
ENST00000409245.5:c.916dup ENSP00000386307.1:p.Asp306GlyfsTer?
ENST00000409825.5:c.966dup
ENST00000441914.5:c.859dup
ENST00000461601.5:n.1343dup
ENST00000474321.6:n.502dup
ENST00000484061.5:n.301dup
ENST00000491786.5:n.422dup
NM_001288951.1:c.1018dup NP_001275880.1:p.Asp340GlyfsTer?
NM_001288953.1:c.916dup NP_001275882.1:p.Asp306GlyfsTer?
NM_001288955.1:c.-45dup NP_001275884.1:n.-45dup
NM_020458.3:c.1018dup NP_065191.2:p.Asp340GlyfsTer?
XM_005264439.2:c.661dup XP_005264496.1:p.Asp221GlyfsTer?
XM_011532998.1:c.661dup XP_011531300.1:p.Asp221GlyfsTer?
XM_011532999.1:c.1018dup XP_011531301.1:p.Asp340GlyfsTer?
XM_011533000.1:c.238dup XP_011531302.1:p.Asp80GlyfsTer?
XR_939696.1:n.1323dup
XM_005264439.4:c.661dup XP_005264496.1:p.Asp221GlyfsTer?
XM_011532998.3:c.661dup XP_011531300.1:p.Asp221GlyfsTer?
XM_011532999.2:c.1018dup XP_011531301.1:p.Asp340GlyfsTer?
XM_011533000.3:c.238dup XP_011531302.1:p.Asp80GlyfsTer?
XM_017004524.1:c.1018dup XP_016860013.1:p.Asp340GlyfsTer?
XM_017004525.1:c.850dup XP_016860014.1:p.Asp284GlyfsTer?
XM_017004526.1:c.1018dup XP_016860015.1:p.Asp340GlyfsTer?
XM_017004529.1:c.1018dup XP_016860018.1:p.Asp340GlyfsTer?
XR_001738853.2:n.1330dup
XR_001738854.1:n.1329dup
NM_020458.4:c.1018dup MANE Select NP_065191.2:p.Asp340GlyfsTer?
NM_001288951.2:c.1018dup NP_001275880.1:p.Asp340GlyfsTer?
NM_001288953.2:c.916dup NP_001275882.1:p.Asp306GlyfsTer?
NM_001288955.2:c.-45dup NP_001275884.1:n.-45dup