Canonical Allele Identifier: CA2744616628

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030684_94030685insAGA , CM000663.2:g.94030684_94030685insAGA	GRCh38
NC_000001.10:g.94496240_94496241insAGA , CM000663.1:g.94496240_94496241insAGA	GRCh37
NC_000001.9:g.94268828_94268829insAGA	NCBI36
NG_009073.1:g.95465_95466insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-159_4254-158insTCT MANE Select	ENSP00000359245.3:n.4254-159_4254-158insTCT
ENST00000370225.3:c.4254-159_4254-158insTCT	ENSP00000359245.3:n.4254-159_4254-158insTCT
ENST00000536513.5:c.630-159_630-158insTCT	ENSP00000439707.2:n.630-159_630-158insTCT
NM_000350.2:c.4254-159_4254-158insTCT	NP_000341.2:n.4254-159_4254-158insTCT
NM_000350.3:c.4254-159_4254-158insTCT MANE Select	NP_000341.2:n.4254-159_4254-158insTCT