Canonical Allele Identifier: CA2784733718
Gene: GNAQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794681_77794683del , CM000671.2:g.77794681_77794683del GRCh38
NC_000009.11:g.80409597_80409599del , CM000671.1:g.80409597_80409599del GRCh37
NC_000009.10:g.79599417_79599419del NCBI36
NG_027904.2:g.241622_241624del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.606-90_606-88del MANE Select ENSP00000286548.4:n.606-90_606-88del
ENST00000286548.8:c.606-90_606-88del ENSP00000286548.4:n.606-90_606-88del
NM_002072.4:c.606-90_606-88del NP_002063.2:n.606-90_606-88del
XM_017014628.2:c.432-90_432-88del XP_016870117.1:n.432-90_432-88del
NM_002072.5:c.606-90_606-88del MANE Select NP_002063.2:n.606-90_606-88del