Canonical Allele Identifier: CA645516632

Gene: CNGA3

Linked Data

• COSMIC: COSM5218256

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396746_98396747dup , CM000664.2:g.98396746_98396747dup	GRCh38
NC_000002.11:g.99013209_99013210dup , CM000664.1:g.99013209_99013210dup	GRCh37
NC_000002.10:g.98379641_98379642dup	NCBI36
NG_009097.1:g.55592_55593dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1576_1577dup MANE Select	ENSP00000272602.2:p.Leu527SerfsTer28
ENST00000272602.6:c.1576_1577dup	ENSP00000272602.2:p.Leu527SerfsTer28
ENST00000393504.5:c.1576_1577dup	ENSP00000377140.1:p.Leu527SerfsTer28
ENST00000409937.1:c.1588_1589dup	ENSP00000386761.1:p.Leu531SerfsTer28
ENST00000436404.6:c.1522_1523dup	ENSP00000410070.2:p.Leu509SerfsTer28
NM_001079878.1:c.1522_1523dup	NP_001073347.1:p.Leu509SerfsTer28
NM_001298.2:c.1576_1577dup	NP_001289.1:p.Leu527SerfsTer28
XM_006712243.2:c.1687_1688dup	XP_006712306.1:p.Leu564SerfsTer28
XM_011510554.1:c.1741_1742dup	XP_011508856.1:p.Leu582SerfsTer28
XM_011510554.2:c.1741_1742dup	XP_011508856.1:p.Leu582SerfsTer28
NM_001079878.2:c.1522_1523dup	NP_001073347.1:p.Leu509SerfsTer28
NM_001298.3:c.1576_1577dup MANE Select	NP_001289.1:p.Leu527SerfsTer28