Canonical Allele Identifier: CA52635026

Gene: CNGA3

Linked Data

• dbSNP Id: rs879325268
• gnomAD v2: 2-99012164-GGTAA-G
• gnomAD v3: 2-98395701-GGTAA-G
• gnomAD v4: 2-98395701-GGTAA-G
• MyVariant Identifiers: chr2:g.99012165_99012168del (hg19) ; chr2:g.98395702_98395705del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395704_98395707del , CM000664.2:g.98395704_98395707del	GRCh38
NC_000002.11:g.99012167_99012170del , CM000664.1:g.99012167_99012170del	GRCh37
NC_000002.10:g.98378599_98378602del	NCBI36
NG_009097.1:g.54550_54553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.674-140_674-137del MANE Select	ENSP00000272602.2:n.674-140_674-137del
ENST00000272602.6:c.674-140_674-137del	ENSP00000272602.2:n.674-140_674-137del
ENST00000393504.5:c.674-140_674-137del	ENSP00000377140.1:n.674-140_674-137del
ENST00000409937.1:c.686-140_686-137del	ENSP00000386761.1:n.686-140_686-137del
ENST00000436404.6:c.620-140_620-137del	ENSP00000410070.2:n.620-140_620-137del
NM_001079878.1:c.620-140_620-137del	NP_001073347.1:n.620-140_620-137del
NM_001298.2:c.674-140_674-137del	NP_001289.1:n.674-140_674-137del
XM_006712243.2:c.785-140_785-137del	XP_006712306.1:n.785-140_785-137del
XM_011510554.1:c.839-140_839-137del	XP_011508856.1:n.839-140_839-137del
XM_011510554.2:c.839-140_839-137del	XP_011508856.1:n.839-140_839-137del
NM_001079878.2:c.620-140_620-137del	NP_001073347.1:n.620-140_620-137del
NM_001298.3:c.674-140_674-137del MANE Select	NP_001289.1:n.674-140_674-137del