Canonical Allele Identifier: CA588764504
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs1281230824
gnomAD v2: 9-80409033-AC-A
gnomAD v3: 9-77794117-AC-A
gnomAD v4: 9-77794117-AC-A
MyVariant Identifiers: chr9:g.80409034del (hg19) chr9:g.77794118del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794118del , CM000671.2:g.77794118del GRCh38
NC_000009.11:g.80409034del , CM000671.1:g.80409034del GRCh37
NC_000009.10:g.79598854del NCBI36
NG_027904.2:g.242186del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+345del MANE Select ENSP00000286548.4:n.735+345del
ENST00000286548.8:c.735+345del ENSP00000286548.4:n.735+345del
NM_002072.4:c.735+345del NP_002063.2:n.735+345del
XM_017014628.2:c.561+345del XP_016870117.1:n.561+345del
NM_002072.5:c.735+345del MANE Select NP_002063.2:n.735+345del
Search 100 bp 5'
Search 100 bp 3'