Canonical Allele Identifier: CA2744619106

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060797_94060800del , CM000663.2:g.94060797_94060800del	GRCh38
NC_000001.10:g.94526353_94526356del , CM000663.1:g.94526353_94526356del	GRCh37
NC_000001.9:g.94298941_94298944del	NCBI36
NG_009073.1:g.65351_65354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-40_1938-37del MANE Select	ENSP00000359245.3:n.1938-40_1938-37del
ENST00000649773.1:c.1938-40_1938-37del	ENSP00000496882.1:n.1938-40_1938-37del
ENST00000370225.3:c.1938-40_1938-37del	ENSP00000359245.3:n.1938-40_1938-37del
ENST00000472033.1:n.58-40_58-37del
ENST00000536513.5:c.-65+2375_-65+2378del	ENSP00000439707.2:n.-65+2375_-65+2378del
NM_000350.2:c.1938-40_1938-37del	NP_000341.2:n.1938-40_1938-37del
NM_000350.3:c.1938-40_1938-37del MANE Select	NP_000341.2:n.1938-40_1938-37del