Canonical Allele Identifier: CA534921170

Gene: CNGA3

Linked Data

• dbSNP Id: rs1483997357
• gnomAD v2: 2-99006133-AAAG-A
• gnomAD v4: 2-98389670-AAAG-A
• MyVariant Identifiers: chr2:g.99006134_99006136del (hg19) ; chr2:g.98389671_98389673del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389674_98389676del , CM000664.2:g.98389674_98389676del	GRCh38
NC_000002.11:g.99006137_99006139del , CM000664.1:g.99006137_99006139del	GRCh37
NC_000002.10:g.98372569_98372571del	NCBI36
NG_009097.1:g.48520_48522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.466_468del MANE Select	ENSP00000272602.2:p.Lys156del
ENST00000272602.6:c.466_468del	ENSP00000272602.2:p.Lys156del
ENST00000393503.2:n.471_473del
ENST00000393504.5:c.466_468del	ENSP00000377140.1:p.Lys156del
ENST00000409937.1:c.478_480del	ENSP00000386761.1:p.Lys160del
ENST00000436404.6:c.412_414del	ENSP00000410070.2:p.Lys138del
NM_001079878.1:c.412_414del	NP_001073347.1:p.Lys138del
NM_001298.2:c.466_468del	NP_001289.1:p.Lys156del
XM_006712243.2:c.577_579del	XP_006712306.1:p.Lys193del
XM_011510554.1:c.631_633del	XP_011508856.1:p.Lys211del
XM_011510554.2:c.631_633del	XP_011508856.1:p.Lys211del
NM_001079878.2:c.412_414del	NP_001073347.1:p.Lys138del
NM_001298.3:c.466_468del MANE Select	NP_001289.1:p.Lys156del