Canonical Allele Identifier: CA2579361433

Gene: GNAQ

Linked Data

• gnomAD v4: 9-77794638-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.77794643del , CM000671.2:g.77794643del	GRCh38
NC_000009.11:g.80409559del , CM000671.1:g.80409559del	GRCh37
NC_000009.10:g.79599379del	NCBI36
NG_027904.2:g.241665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286548.9:c.606-47del MANE Select	ENSP00000286548.4:n.606-47del
ENST00000286548.8:c.606-47del	ENSP00000286548.4:n.606-47del
NM_002072.4:c.606-47del	NP_002063.2:n.606-47del
XM_017014628.2:c.432-47del	XP_016870117.1:n.432-47del
NM_002072.5:c.606-47del MANE Select	NP_002063.2:n.606-47del