Canonical Allele Identifier: CA2646646353

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94011176-C-CAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011176_94011177insAT , CM000663.2:g.94011176_94011177insAT	GRCh38
NC_000001.10:g.94476732_94476733insAT , CM000663.1:g.94476732_94476733insAT	GRCh37
NC_000001.9:g.94249320_94249321insAT	NCBI36
NG_009073.1:g.114973_114974insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5584+85_5584+86insAT MANE Select	ENSP00000359245.3:n.5584+85_5584+86insAT
ENST00000370225.3:c.5584+85_5584+86insAT	ENSP00000359245.3:n.5584+85_5584+86insAT
ENST00000536513.5:c.1960+85_1960+86insAT	ENSP00000439707.2:n.1960+85_1960+86insAT
NM_000350.2:c.5584+85_5584+86insAT	NP_000341.2:n.5584+85_5584+86insAT
NM_000350.3:c.5584+85_5584+86insAT MANE Select	NP_000341.2:n.5584+85_5584+86insAT