Canonical Allele Identifier: CA130674
Gene: GNAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.11753835dup , CM000680.2:g.11753835dup GRCh38
NC_000018.9:g.11753834dup , CM000680.1:g.11753834dup GRCh37
NC_000018.8:g.11743834dup NCBI36
NG_033866.1:g.69821dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000334049.11:c.514dup MANE Select ENSP00000334051.5:p.Ser172PhefsTer16
ENST00000423027.8:c.283dup MANE Plus Clinical ENSP00000408489.2:p.Ser95PhefsTer16
ENST00000269162.9:c.283dup ENSP00000269162.4:p.Ser95PhefsTer16
ENST00000334049.10:c.514dup ENSP00000334051.5:p.Ser172PhefsTer16
ENST00000423027.7:c.283dup ENSP00000408489.2:p.Ser95PhefsTer16
ENST00000535121.5:c.283dup ENSP00000439023.1:p.Ser95PhefsTer16
ENST00000585642.5:c.100dup ENSP00000467345.1:p.Ser34PhefsTer16
ENST00000590228.1:c.-6dup ENSP00000467709.1:n.-6dup
ENST00000590972.1:n.107dup
NM_001142339.2:c.283dup NP_001135811.1:p.Ser95PhefsTer16
NM_001261443.1:c.283dup NP_001248372.1:p.Ser95PhefsTer16
NM_182978.3:c.514dup NP_892023.1:p.Ser172PhefsTer16
XM_006722323.2:c.283dup XP_006722386.1:p.Ser95PhefsTer16
XM_006722324.1:c.514dup XP_006722387.1:p.Ser172PhefsTer16
XM_011525654.1:c.283dup XP_011523956.1:p.Ser95PhefsTer16
XM_006722324.3:c.514dup XP_006722387.1:p.Ser172PhefsTer16
XM_024451164.1:c.283dup XP_024306932.1:p.Ser95PhefsTer16
NM_182978.4:c.514dup MANE Select NP_892023.1:p.Ser172PhefsTer16
NM_001369387.1:c.283dup MANE Plus Clinical NP_001356316.1:p.Ser95PhefsTer16
NM_001142339.3:c.283dup NP_001135811.1:p.Ser95PhefsTer16
NM_001261443.2:c.283dup NP_001248372.1:p.Ser95PhefsTer16