Canonical Allele Identifier: CA2744617264

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94040998del , CM000663.2:g.94040998del	GRCh38
NC_000001.10:g.94506554del , CM000663.1:g.94506554del	GRCh37
NC_000001.9:g.94279142del	NCBI36
NG_009073.1:g.85152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3522+211del MANE Select	ENSP00000359245.3:n.3522+211del
ENST00000370225.3:c.3522+211del	ENSP00000359245.3:n.3522+211del
ENST00000536513.5:c.-64-909del	ENSP00000439707.2:n.-64-909del
NM_000350.2:c.3522+211del	NP_000341.2:n.3522+211del
NM_000350.3:c.3522+211del MANE Select	NP_000341.2:n.3522+211del