Canonical Allele Identifier: CA130675
Gene: GNAL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.11864577dup , CM000680.2:g.11864577dup GRCh38
NC_000018.9:g.11864576dup , CM000680.1:g.11864576dup GRCh37
NC_000018.8:g.11854576dup NCBI36
NG_033866.1:g.180563dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000334049.11:c.822dup MANE Select ENSP00000334051.5:p.Arg275ThrfsTer13
ENST00000423027.8:c.591dup MANE Plus Clinical ENSP00000408489.2:p.Arg198ThrfsTer13
ENST00000269162.9:c.591dup ENSP00000269162.4:p.Arg198ThrfsTer13
ENST00000334049.10:c.822dup ENSP00000334051.5:p.Arg275ThrfsTer13
ENST00000423027.7:c.591dup ENSP00000408489.2:p.Arg198ThrfsTer13
ENST00000535121.5:c.591dup ENSP00000439023.1:p.Arg198ThrfsTer13
ENST00000585642.5:c.408dup ENSP00000467345.1:p.Arg137ThrfsTer13
ENST00000590228.1:c.303dup ENSP00000467709.1:p.Arg102ThrfsTer13
ENST00000602628.1:c.-31dup ENSP00000473600.1:n.-31dup
NM_001142339.2:c.591dup NP_001135811.1:p.Arg198ThrfsTer13
NM_001261443.1:c.591dup NP_001248372.1:p.Arg198ThrfsTer13
NM_001261444.1:c.-31dup NP_001248373.1:n.-31dup
NM_182978.3:c.822dup NP_892023.1:p.Arg275ThrfsTer13
XM_006722323.2:c.591dup XP_006722386.1:p.Arg198ThrfsTer13
XM_011525654.1:c.591dup XP_011523956.1:p.Arg198ThrfsTer13
XM_024451164.1:c.591dup XP_024306932.1:p.Arg198ThrfsTer13
NM_182978.4:c.822dup MANE Select NP_892023.1:p.Arg275ThrfsTer13
NM_001261444.2:c.-31dup NP_001248373.1:n.-31dup
NM_001369387.1:c.591dup MANE Plus Clinical NP_001356316.1:p.Arg198ThrfsTer13
NM_001142339.3:c.591dup NP_001135811.1:p.Arg198ThrfsTer13
NM_001261443.2:c.591dup NP_001248372.1:p.Arg198ThrfsTer13