Canonical Allele Identifier: CA2744617561

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041594_94041595del , CM000663.2:g.94041594_94041595del	GRCh38
NC_000001.10:g.94507150_94507151del , CM000663.1:g.94507150_94507151del	GRCh37
NC_000001.9:g.94279738_94279739del	NCBI36
NG_009073.1:g.84555_84556del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-193_3329-192del MANE Select	ENSP00000359245.3:n.3329-193_3329-192del
ENST00000370225.3:c.3329-193_3329-192del	ENSP00000359245.3:n.3329-193_3329-192del
ENST00000536513.5:c.-64-1506_-64-1505del	ENSP00000439707.2:n.-64-1506_-64-1505del
NM_000350.2:c.3329-193_3329-192del	NP_000341.2:n.3329-193_3329-192del
NM_000350.3:c.3329-193_3329-192del MANE Select	NP_000341.2:n.3329-193_3329-192del