Canonical Allele Identifier: CA2586964110
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011319_94011323del , CM000663.2:g.94011319_94011323del GRCh38
NC_000001.10:g.94476875_94476879del , CM000663.1:g.94476875_94476879del GRCh37
NC_000001.9:g.94249463_94249467del NCBI36
NG_009073.1:g.114830_114834del

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5526_5530del MANE Select ENSP00000359245.3:p.Arg1843ProfsTer3
ENST00000370225.3:c.5526_5530del ENSP00000359245.3:p.Arg1843ProfsTer3
ENST00000536513.5:c.1902_1906del ENSP00000439707.2:p.Arg635ProfsTer3
NM_000350.2:c.5526_5530del NP_000341.2:p.Arg1843ProfsTer3
NM_000350.3:c.5526_5530del MANE Select NP_000341.2:p.Arg1843ProfsTer3
Search 100 bp 5'
Search 100 bp 3'