Canonical Allele Identifier: CA2744619169

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060870_94060871del , CM000663.2:g.94060870_94060871del	GRCh38
NC_000001.10:g.94526426_94526427del , CM000663.1:g.94526426_94526427del	GRCh37
NC_000001.9:g.94299014_94299015del	NCBI36
NG_009073.1:g.65279_65280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-112_1938-111del MANE Select	ENSP00000359245.3:n.1938-112_1938-111del
ENST00000649773.1:c.1938-112_1938-111del	ENSP00000496882.1:n.1938-112_1938-111del
ENST00000370225.3:c.1938-112_1938-111del	ENSP00000359245.3:n.1938-112_1938-111del
ENST00000472033.1:n.58-112_58-111del
ENST00000536513.5:c.-65+2303_-65+2304del	ENSP00000439707.2:n.-65+2303_-65+2304del
NM_000350.2:c.1938-112_1938-111del	NP_000341.2:n.1938-112_1938-111del
NM_000350.3:c.1938-112_1938-111del MANE Select	NP_000341.2:n.1938-112_1938-111del