Canonical Allele Identifier: CA2646647390
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021529del , CM000663.2:g.94021529del GRCh38
NC_000001.10:g.94487085del , CM000663.1:g.94487085del GRCh37
NC_000001.9:g.94259673del NCBI36
NG_009073.1:g.104621del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4848+111del MANE Select ENSP00000359245.3:n.4848+111del
ENST00000370225.3:c.4848+111del ENSP00000359245.3:n.4848+111del
ENST00000460514.1:n.342+111del
ENST00000536513.5:c.1224+111del ENSP00000439707.2:n.1224+111del
NM_000350.2:c.4848+111del NP_000341.2:n.4848+111del
NM_000350.3:c.4848+111del MANE Select NP_000341.2:n.4848+111del