Canonical Allele Identifier: CA2744617334

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041472del , CM000663.2:g.94041472del	GRCh38
NC_000001.10:g.94507028del , CM000663.1:g.94507028del	GRCh37
NC_000001.9:g.94279616del	NCBI36
NG_009073.1:g.84678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-70del MANE Select	ENSP00000359245.3:n.3329-70del
ENST00000370225.3:c.3329-70del	ENSP00000359245.3:n.3329-70del
ENST00000536513.5:c.-64-1383del	ENSP00000439707.2:n.-64-1383del
NM_000350.2:c.3329-70del	NP_000341.2:n.3329-70del
NM_000350.3:c.3329-70del MANE Select	NP_000341.2:n.3329-70del