Canonical Allele Identifier: CA2744614511

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011405_94011406insA , CM000663.2:g.94011405_94011406insA	GRCh38
NC_000001.10:g.94476961_94476962insA , CM000663.1:g.94476961_94476962insA	GRCh37
NC_000001.9:g.94249549_94249550insA	NCBI36
NG_009073.1:g.114744_114745insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.5461-21_5461-20insT MANE Select	ENSP00000359245.3:n.5461-21_5461-20insT
ENST00000370225.3:c.5461-21_5461-20insT	ENSP00000359245.3:n.5461-21_5461-20insT
ENST00000536513.5:c.1837-21_1837-20insT	ENSP00000439707.2:n.1837-21_1837-20insT
NM_000350.2:c.5461-21_5461-20insT	NP_000341.2:n.5461-21_5461-20insT
NM_000350.3:c.5461-21_5461-20insT MANE Select	NP_000341.2:n.5461-21_5461-20insT