Canonical Allele Identifier: CA2744616615

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030675_94030676insAGT , CM000663.2:g.94030675_94030676insAGT	GRCh38
NC_000001.10:g.94496231_94496232insAGT , CM000663.1:g.94496231_94496232insAGT	GRCh37
NC_000001.9:g.94268819_94268820insAGT	NCBI36
NG_009073.1:g.95474_95475insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-150_4254-149insACT MANE Select	ENSP00000359245.3:n.4254-150_4254-149insACT
ENST00000370225.3:c.4254-150_4254-149insACT	ENSP00000359245.3:n.4254-150_4254-149insACT
ENST00000536513.5:c.630-150_630-149insACT	ENSP00000439707.2:n.630-150_630-149insACT
NM_000350.2:c.4254-150_4254-149insACT	NP_000341.2:n.4254-150_4254-149insACT
NM_000350.3:c.4254-150_4254-149insACT MANE Select	NP_000341.2:n.4254-150_4254-149insACT