Canonical Allele Identifier: CA2744619157

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060852_94060853del , CM000663.2:g.94060852_94060853del	GRCh38
NC_000001.10:g.94526408_94526409del , CM000663.1:g.94526408_94526409del	GRCh37
NC_000001.9:g.94298996_94298997del	NCBI36
NG_009073.1:g.65297_65298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-94_1938-93del MANE Select	ENSP00000359245.3:n.1938-94_1938-93del
ENST00000649773.1:c.1938-94_1938-93del	ENSP00000496882.1:n.1938-94_1938-93del
ENST00000370225.3:c.1938-94_1938-93del	ENSP00000359245.3:n.1938-94_1938-93del
ENST00000472033.1:n.58-94_58-93del
ENST00000536513.5:c.-65+2321_-65+2322del	ENSP00000439707.2:n.-65+2321_-65+2322del
NM_000350.2:c.1938-94_1938-93del	NP_000341.2:n.1938-94_1938-93del
NM_000350.3:c.1938-94_1938-93del MANE Select	NP_000341.2:n.1938-94_1938-93del