Canonical Allele Identifier: CA1857429119
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs1826622758

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794241del , CM000671.2:g.77794241del GRCh38
NC_000009.11:g.80409157del , CM000671.1:g.80409157del GRCh37
NC_000009.10:g.79598977del NCBI36
NG_027904.2:g.242067del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+226del MANE Select ENSP00000286548.4:n.735+226del
ENST00000286548.8:c.735+226del ENSP00000286548.4:n.735+226del
NM_002072.4:c.735+226del NP_002063.2:n.735+226del
XM_017014628.2:c.561+226del XP_016870117.1:n.561+226del
NM_002072.5:c.735+226del MANE Select NP_002063.2:n.735+226del