Canonical Allele Identifier: CA2744614517

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011415_94011416insA , CM000663.2:g.94011415_94011416insA	GRCh38
NC_000001.10:g.94476971_94476972insA , CM000663.1:g.94476971_94476972insA	GRCh37
NC_000001.9:g.94249559_94249560insA	NCBI36
NG_009073.1:g.114734_114735insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5461-31_5461-30insT MANE Select	ENSP00000359245.3:n.5461-31_5461-30insT
ENST00000370225.3:c.5461-31_5461-30insT	ENSP00000359245.3:n.5461-31_5461-30insT
ENST00000536513.5:c.1837-31_1837-30insT	ENSP00000439707.2:n.1837-31_1837-30insT
NM_000350.2:c.5461-31_5461-30insT	NP_000341.2:n.5461-31_5461-30insT
NM_000350.3:c.5461-31_5461-30insT MANE Select	NP_000341.2:n.5461-31_5461-30insT