Canonical Allele Identifier: CA2646647373

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94021498-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021501del , CM000663.2:g.94021501del	GRCh38
NC_000001.10:g.94487057del , CM000663.1:g.94487057del	GRCh37
NC_000001.9:g.94259645del	NCBI36
NG_009073.1:g.104651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-90del MANE Select	ENSP00000359245.3:n.4849-90del
ENST00000370225.3:c.4849-90del	ENSP00000359245.3:n.4849-90del
ENST00000460514.1:n.343-90del
ENST00000536513.5:c.1225-90del	ENSP00000439707.2:n.1225-90del
NM_000350.2:c.4849-90del	NP_000341.2:n.4849-90del
NM_000350.3:c.4849-90del MANE Select	NP_000341.2:n.4849-90del