Canonical Allele Identifier: CA588764503
Gene: GNAQ HGNC NCBI

Linked Data

dbSNP Id: rs1447163182
gnomAD v2: 9-80409019-GAAAAC-G
gnomAD v3: 9-77794103-GAAAAC-G
gnomAD v4: 9-77794103-GAAAAC-G
MyVariant Identifiers: chr9:g.80409020_80409024del (hg19) chr9:g.77794104_77794108del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77794115_77794119del , CM000671.2:g.77794115_77794119del GRCh38
NC_000009.11:g.80409031_80409035del , CM000671.1:g.80409031_80409035del GRCh37
NC_000009.10:g.79598851_79598855del NCBI36
NG_027904.2:g.242196_242200del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286548.9:c.735+355_735+359del MANE Select ENSP00000286548.4:n.735+355_735+359del
ENST00000286548.8:c.735+355_735+359del ENSP00000286548.4:n.735+355_735+359del
NM_002072.4:c.735+355_735+359del NP_002063.2:n.735+355_735+359del
XM_017014628.2:c.561+355_561+359del XP_016870117.1:n.561+355_561+359del
NM_002072.5:c.735+355_735+359del MANE Select NP_002063.2:n.735+355_735+359del
Search 100 bp 5'
Search 100 bp 3'