Canonical Allele Identifier: CA2586969730

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396739_98396747del , CM000664.2:g.98396739_98396747del	GRCh38
NC_000002.11:g.99013202_99013210del , CM000664.1:g.99013202_99013210del	GRCh37
NC_000002.10:g.98379634_98379642del	NCBI36
NG_009097.1:g.55585_55593del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1569_1577del MANE Select	ENSP00000272602.2:p.Asn523_Gly525del
ENST00000272602.6:c.1569_1577del	ENSP00000272602.2:p.Asn523_Gly525del
ENST00000393504.5:c.1569_1577del	ENSP00000377140.1:p.Asn523_Gly525del
ENST00000409937.1:c.1581_1589del	ENSP00000386761.1:p.Asn527_Gly529del
ENST00000436404.6:c.1515_1523del	ENSP00000410070.2:p.Asn505_Gly507del
NM_001079878.1:c.1515_1523del	NP_001073347.1:p.Asn505_Gly507del
NM_001298.2:c.1569_1577del	NP_001289.1:p.Asn523_Gly525del
XM_006712243.2:c.1680_1688del	XP_006712306.1:p.Asn560_Gly562del
XM_011510554.1:c.1734_1742del	XP_011508856.1:p.Asn578_Gly580del
XM_011510554.2:c.1734_1742del	XP_011508856.1:p.Asn578_Gly580del
NM_001079878.2:c.1515_1523del	NP_001073347.1:p.Asn505_Gly507del
NM_001298.3:c.1569_1577del MANE Select	NP_001289.1:p.Asn523_Gly525del