Canonical Allele Identifier: CA1857429018
Gene: GNAQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794093_77794104delinsTAAACAAAATGA , CM000671.2:g.77794093_77794104delinsTAAACAAAATGA GRCh38
NC_000009.11:g.80409009_80409020delinsTAAACAAAATGA , CM000671.1:g.80409009_80409020delinsTAAACAAAATGA GRCh37
NC_000009.10:g.79598829_79598840delinsTAAACAAAATGA NCBI36
NG_027904.2:g.242200_242211delinsTCATTTTGTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+359_735+370delinsTCATTTTGTTTA MANE Select ENSP00000286548.4:n.735+359_735+370delinsTCATTTTGTTTA
ENST00000286548.8:c.735+359_735+370delinsTCATTTTGTTTA ENSP00000286548.4:n.735+359_735+370delinsTCATTTTGTTTA
NM_002072.4:c.735+359_735+370delinsTCATTTTGTTTA NP_002063.2:n.735+359_735+370delinsTCATTTTGTTTA
XM_017014628.2:c.561+359_561+370delinsTCATTTTGTTTA XP_016870117.1:n.561+359_561+370delinsTCATTTTGTTTA
NM_002072.5:c.735+359_735+370delinsTCATTTTGTTTA MANE Select NP_002063.2:n.735+359_735+370delinsTCATTTTGTTTA