Canonical Allele Identifier: CA2567670922
Gene: GNAQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794220_77794222del , CM000671.2:g.77794220_77794222del GRCh38
NC_000009.11:g.80409136_80409138del , CM000671.1:g.80409136_80409138del GRCh37
NC_000009.10:g.79598956_79598958del NCBI36
NG_027904.2:g.242082_242084del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+241_735+243del MANE Select ENSP00000286548.4:n.735+241_735+243del
ENST00000286548.8:c.735+241_735+243del ENSP00000286548.4:n.735+241_735+243del
NM_002072.4:c.735+241_735+243del NP_002063.2:n.735+241_735+243del
XM_017014628.2:c.561+241_561+243del XP_016870117.1:n.561+241_561+243del
NM_002072.5:c.735+241_735+243del MANE Select NP_002063.2:n.735+241_735+243del