Canonical Allele Identifier: CA2744617540

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041541_94041548del , CM000663.2:g.94041541_94041548del	GRCh38
NC_000001.10:g.94507097_94507104del , CM000663.1:g.94507097_94507104del	GRCh37
NC_000001.9:g.94279685_94279692del	NCBI36
NG_009073.1:g.84602_84609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-146_3329-139del MANE Select	ENSP00000359245.3:n.3329-146_3329-139del
ENST00000370225.3:c.3329-146_3329-139del	ENSP00000359245.3:n.3329-146_3329-139del
ENST00000536513.5:c.-64-1459_-64-1452del	ENSP00000439707.2:n.-64-1459_-64-1452del
NM_000350.2:c.3329-146_3329-139del	NP_000341.2:n.3329-146_3329-139del
NM_000350.3:c.3329-146_3329-139del MANE Select	NP_000341.2:n.3329-146_3329-139del