Canonical Allele Identifier: CA2646645426
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001795del , CM000663.2:g.94001795del GRCh38
NC_000001.10:g.94467351del , CM000663.1:g.94467351del GRCh37
NC_000001.9:g.94239939del NCBI36
NG_009073.1:g.124357del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6282+65del MANE Select ENSP00000359245.3:n.6282+65del
ENST00000370225.3:c.6282+65del ENSP00000359245.3:n.6282+65del
ENST00000465352.1:n.763del
ENST00000536513.5:c.2658+65del ENSP00000439707.2:n.2658+65del
NM_000350.2:c.6282+65del NP_000341.2:n.6282+65del
NM_000350.3:c.6282+65del MANE Select NP_000341.2:n.6282+65del