Canonical Allele Identifier: CA2744619296

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062828_94062829insA , CM000663.2:g.94062828_94062829insA	GRCh38
NC_000001.10:g.94528384_94528385insA , CM000663.1:g.94528384_94528385insA	GRCh37
NC_000001.9:g.94300972_94300973insA	NCBI36
NG_009073.1:g.63321_63322insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-76_1761-75insT MANE Select	ENSP00000359245.3:n.1761-76_1761-75insT
ENST00000649773.1:c.1761-76_1761-75insT	ENSP00000496882.1:n.1761-76_1761-75insT
ENST00000370225.3:c.1761-76_1761-75insT	ENSP00000359245.3:n.1761-76_1761-75insT
ENST00000536513.5:c.-65+345_-65+346insT	ENSP00000439707.2:n.-65+345_-65+346insT
NM_000350.2:c.1761-76_1761-75insT	NP_000341.2:n.1761-76_1761-75insT
NM_000350.3:c.1761-76_1761-75insT MANE Select	NP_000341.2:n.1761-76_1761-75insT