Canonical Allele Identifier: CA2574438473

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060795_94060799del , CM000663.2:g.94060795_94060799del	GRCh38
NC_000001.10:g.94526351_94526355del , CM000663.1:g.94526351_94526355del	GRCh37
NC_000001.9:g.94298939_94298943del	NCBI36
NG_009073.1:g.65353_65357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-38_1938-34del MANE Select	ENSP00000359245.3:n.1938-38_1938-34del
ENST00000649773.1:c.1938-38_1938-34del	ENSP00000496882.1:n.1938-38_1938-34del
ENST00000370225.3:c.1938-38_1938-34del	ENSP00000359245.3:n.1938-38_1938-34del
ENST00000472033.1:n.58-38_58-34del
ENST00000536513.5:c.-65+2377_-65+2381del	ENSP00000439707.2:n.-65+2377_-65+2381del
NM_000350.2:c.1938-38_1938-34del	NP_000341.2:n.1938-38_1938-34del
NM_000350.3:c.1938-38_1938-34del MANE Select	NP_000341.2:n.1938-38_1938-34del