Canonical Allele Identifier: CA2744617389

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041483_94041484insA , CM000663.2:g.94041483_94041484insA	GRCh38
NC_000001.10:g.94507039_94507040insA , CM000663.1:g.94507039_94507040insA	GRCh37
NC_000001.9:g.94279627_94279628insA	NCBI36
NG_009073.1:g.84666_84667insT

Transcript Alleles

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