Canonical Allele Identifier: CA2744615628
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021492del , CM000663.2:g.94021492del GRCh38
NC_000001.10:g.94487048del , CM000663.1:g.94487048del GRCh37
NC_000001.9:g.94259636del NCBI36
NG_009073.1:g.104658del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4849-83del MANE Select ENSP00000359245.3:n.4849-83del
ENST00000370225.3:c.4849-83del ENSP00000359245.3:n.4849-83del
ENST00000460514.1:n.343-83del
ENST00000536513.5:c.1225-83del ENSP00000439707.2:n.1225-83del
NM_000350.2:c.4849-83del NP_000341.2:n.4849-83del
NM_000350.3:c.4849-83del MANE Select NP_000341.2:n.4849-83del