Canonical Allele Identifier: CA2744616548

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030604_94030615del , CM000663.2:g.94030604_94030615del	GRCh38
NC_000001.10:g.94496160_94496171del , CM000663.1:g.94496160_94496171del	GRCh37
NC_000001.9:g.94268748_94268759del	NCBI36
NG_009073.1:g.95535_95546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-89_4254-78del MANE Select	ENSP00000359245.3:n.4254-89_4254-78del
ENST00000370225.3:c.4254-89_4254-78del	ENSP00000359245.3:n.4254-89_4254-78del
ENST00000536513.5:c.630-89_630-78del	ENSP00000439707.2:n.630-89_630-78del
NM_000350.2:c.4254-89_4254-78del	NP_000341.2:n.4254-89_4254-78del
NM_000350.3:c.4254-89_4254-78del MANE Select	NP_000341.2:n.4254-89_4254-78del