Canonical Allele Identifier: CA2580063371
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2123892
ClinVar RCV Id: RCV003055304
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030515_94030518dup , CM000663.2:g.94030515_94030518dup GRCh38
NC_000001.10:g.94496071_94496074dup , CM000663.1:g.94496071_94496074dup GRCh37
NC_000001.9:g.94268659_94268662dup NCBI36
NG_009073.1:g.95633_95636dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4263_4266dup MANE Select ENSP00000359245.3:p.Gly1423ThrfsTer4
ENST00000370225.3:c.4263_4266dup ENSP00000359245.3:p.Gly1423ThrfsTer4
ENST00000536513.5:c.639_642dup ENSP00000439707.2:p.Gly215ThrfsTer4
NM_000350.2:c.4263_4266dup NP_000341.2:p.Gly1423ThrfsTer4
NM_000350.3:c.4263_4266dup MANE Select NP_000341.2:p.Gly1423ThrfsTer4
Search 100 bp 5'
Search 100 bp 3'