Canonical Allele Identifier: CA2744617354

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041477_94041482del , CM000663.2:g.94041477_94041482del	GRCh38
NC_000001.10:g.94507033_94507038del , CM000663.1:g.94507033_94507038del	GRCh37
NC_000001.9:g.94279621_94279626del	NCBI36
NG_009073.1:g.84668_84673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-80_3329-75del MANE Select	ENSP00000359245.3:n.3329-80_3329-75del
ENST00000370225.3:c.3329-80_3329-75del	ENSP00000359245.3:n.3329-80_3329-75del
ENST00000536513.5:c.-64-1393_-64-1388del	ENSP00000439707.2:n.-64-1393_-64-1388del
NM_000350.2:c.3329-80_3329-75del	NP_000341.2:n.3329-80_3329-75del
NM_000350.3:c.3329-80_3329-75del MANE Select	NP_000341.2:n.3329-80_3329-75del