Canonical Allele Identifier: CA2744619272

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062806_94062807insTA , CM000663.2:g.94062806_94062807insTA	GRCh38
NC_000001.10:g.94528362_94528363insTA , CM000663.1:g.94528362_94528363insTA	GRCh37
NC_000001.9:g.94300950_94300951insTA	NCBI36
NG_009073.1:g.63344_63345insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-53_1761-52insAT MANE Select	ENSP00000359245.3:n.1761-53_1761-52insAT
ENST00000649773.1:c.1761-53_1761-52insAT	ENSP00000496882.1:n.1761-53_1761-52insAT
ENST00000370225.3:c.1761-53_1761-52insAT	ENSP00000359245.3:n.1761-53_1761-52insAT
ENST00000536513.5:c.-65+368_-65+369insAT	ENSP00000439707.2:n.-65+368_-65+369insAT
NM_000350.2:c.1761-53_1761-52insAT	NP_000341.2:n.1761-53_1761-52insAT
NM_000350.3:c.1761-53_1761-52insAT MANE Select	NP_000341.2:n.1761-53_1761-52insAT