Canonical Allele Identifier: CA2744617384

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041483_94041484insAGT , CM000663.2:g.94041483_94041484insAGT	GRCh38
NC_000001.10:g.94507039_94507040insAGT , CM000663.1:g.94507039_94507040insAGT	GRCh37
NC_000001.9:g.94279627_94279628insAGT	NCBI36
NG_009073.1:g.84666_84667insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-82_3329-81insACT MANE Select	ENSP00000359245.3:n.3329-82_3329-81insACT
ENST00000370225.3:c.3329-82_3329-81insACT	ENSP00000359245.3:n.3329-82_3329-81insACT
ENST00000536513.5:c.-64-1395_-64-1394insACT	ENSP00000439707.2:n.-64-1395_-64-1394insACT
NM_000350.2:c.3329-82_3329-81insACT	NP_000341.2:n.3329-82_3329-81insACT
NM_000350.3:c.3329-82_3329-81insACT MANE Select	NP_000341.2:n.3329-82_3329-81insACT