Canonical Allele Identifier: CA2744621204

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111652_94111653insACA , CM000663.2:g.94111652_94111653insACA	GRCh38
NC_000001.10:g.94577208_94577209insACA , CM000663.1:g.94577208_94577209insACA	GRCh37
NC_000001.9:g.94349796_94349797insACA	NCBI36
NG_009073.1:g.14497_14498insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.161-74_161-73insTGT MANE Select	ENSP00000359245.3:n.161-74_161-73insTGT
ENST00000649773.1:c.161-74_161-73insTGT	ENSP00000496882.1:n.161-74_161-73insTGT
ENST00000370225.3:c.161-74_161-73insTGT	ENSP00000359245.3:n.161-74_161-73insTGT
NM_000350.2:c.161-74_161-73insTGT	NP_000341.2:n.161-74_161-73insTGT
NM_000350.3:c.161-74_161-73insTGT MANE Select	NP_000341.2:n.161-74_161-73insTGT