Canonical Allele Identifier: CA2744616545

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030598_94030599insACAC , CM000663.2:g.94030598_94030599insACAC	GRCh38
NC_000001.10:g.94496154_94496155insACAC , CM000663.1:g.94496154_94496155insACAC	GRCh37
NC_000001.9:g.94268742_94268743insACAC	NCBI36
NG_009073.1:g.95551_95552insGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-73_4254-72insGTGT MANE Select	ENSP00000359245.3:n.4254-73_4254-72insGTGT
ENST00000370225.3:c.4254-73_4254-72insGTGT	ENSP00000359245.3:n.4254-73_4254-72insGTGT
ENST00000536513.5:c.630-73_630-72insGTGT	ENSP00000439707.2:n.630-73_630-72insGTGT
NM_000350.2:c.4254-73_4254-72insGTGT	NP_000341.2:n.4254-73_4254-72insGTGT
NM_000350.3:c.4254-73_4254-72insGTGT MANE Select	NP_000341.2:n.4254-73_4254-72insGTGT