Canonical Allele Identifier: CA2744617535

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041538_94041540del , CM000663.2:g.94041538_94041540del	GRCh38
NC_000001.10:g.94507094_94507096del , CM000663.1:g.94507094_94507096del	GRCh37
NC_000001.9:g.94279682_94279684del	NCBI36
NG_009073.1:g.84610_84612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-138_3329-136del MANE Select	ENSP00000359245.3:n.3329-138_3329-136del
ENST00000370225.3:c.3329-138_3329-136del	ENSP00000359245.3:n.3329-138_3329-136del
ENST00000536513.5:c.-64-1451_-64-1449del	ENSP00000439707.2:n.-64-1451_-64-1449del
NM_000350.2:c.3329-138_3329-136del	NP_000341.2:n.3329-138_3329-136del
NM_000350.3:c.3329-138_3329-136del MANE Select	NP_000341.2:n.3329-138_3329-136del