Canonical Allele Identifier: CA2646647610
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021101del , CM000663.2:g.94021101del GRCh38
NC_000001.10:g.94486657del , CM000663.1:g.94486657del GRCh37
NC_000001.9:g.94259245del NCBI36
NG_009073.1:g.105051del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5018+141del MANE Select ENSP00000359245.3:n.5018+141del
ENST00000370225.3:c.5018+141del ENSP00000359245.3:n.5018+141del
ENST00000460514.1:n.512+141del
ENST00000470771.1:n.128+141del
ENST00000536513.5:c.1394+141del ENSP00000439707.2:n.1394+141del
NM_000350.2:c.5018+141del NP_000341.2:n.5018+141del
NM_000350.3:c.5018+141del MANE Select NP_000341.2:n.5018+141del