Canonical Allele Identifier: CA534921767

Gene: CNGA3

Linked Data

• dbSNP Id: rs1389023034
• gnomAD v2: 2-99010379-TAAG-T
• gnomAD v3: 2-98393916-TAAG-T
• gnomAD v4: 2-98393916-TAAG-T
• MyVariant Identifiers: chr2:g.99010380_99010382del (hg19) ; chr2:g.98393917_98393919del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98393922_98393924del , CM000664.2:g.98393922_98393924del	GRCh38
NC_000002.11:g.99010385_99010387del , CM000664.1:g.99010385_99010387del	GRCh37
NC_000002.10:g.98376817_98376819del	NCBI36
NG_009097.1:g.52768_52770del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.674-1922_674-1920del MANE Select	ENSP00000272602.2:n.674-1922_674-1920del
ENST00000272602.6:c.674-1922_674-1920del	ENSP00000272602.2:n.674-1922_674-1920del
ENST00000393504.5:c.674-1922_674-1920del	ENSP00000377140.1:n.674-1922_674-1920del
ENST00000409937.1:c.686-1922_686-1920del	ENSP00000386761.1:n.686-1922_686-1920del
ENST00000436404.6:c.620-1922_620-1920del	ENSP00000410070.2:n.620-1922_620-1920del
NM_001079878.1:c.620-1922_620-1920del	NP_001073347.1:n.620-1922_620-1920del
NM_001298.2:c.674-1922_674-1920del	NP_001289.1:n.674-1922_674-1920del
XM_006712243.2:c.785-1922_785-1920del	XP_006712306.1:n.785-1922_785-1920del
XM_011510554.1:c.839-1922_839-1920del	XP_011508856.1:n.839-1922_839-1920del
XM_011510554.2:c.839-1922_839-1920del	XP_011508856.1:n.839-1922_839-1920del
NM_001079878.2:c.620-1922_620-1920del	NP_001073347.1:n.620-1922_620-1920del
NM_001298.3:c.674-1922_674-1920del MANE Select	NP_001289.1:n.674-1922_674-1920del