Canonical Allele Identifier: CA2744619110

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060807_94060892del , CM000663.2:g.94060807_94060892del	GRCh38
NC_000001.10:g.94526363_94526448del , CM000663.1:g.94526363_94526448del	GRCh37
NC_000001.9:g.94298951_94299036del	NCBI36
NG_009073.1:g.65263_65348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-128_1938-43del MANE Select	ENSP00000359245.3:n.1938-128_1938-43del
ENST00000649773.1:c.1938-128_1938-43del	ENSP00000496882.1:n.1938-128_1938-43del
ENST00000370225.3:c.1938-128_1938-43del	ENSP00000359245.3:n.1938-128_1938-43del
ENST00000472033.1:n.58-128_58-43del
ENST00000536513.5:c.-65+2287_-65+2372del	ENSP00000439707.2:n.-65+2287_-65+2372del
NM_000350.2:c.1938-128_1938-43del	NP_000341.2:n.1938-128_1938-43del
NM_000350.3:c.1938-128_1938-43del MANE Select	NP_000341.2:n.1938-128_1938-43del