Canonical Allele Identifier: CA915941330
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 812202
ClinVar RCV Id: RCV002267745
dbSNP Id: rs1571257937
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021364dup , CM000663.2:g.94021364dup GRCh38
NC_000001.10:g.94486920dup , CM000663.1:g.94486920dup GRCh37
NC_000001.9:g.94259508dup NCBI36
NG_009073.1:g.104787dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4895dup MANE Select ENSP00000359245.3:p.Asn1632LysfsTer14
ENST00000370225.3:c.4895dup ENSP00000359245.3:p.Asn1632LysfsTer14
ENST00000460514.1:n.389dup
ENST00000470771.1:n.5dup
ENST00000536513.5:c.1271dup ENSP00000439707.2:p.Asn424LysfsTer14
NM_000350.2:c.4895dup NP_000341.2:p.Asn1632LysfsTer14
NM_000350.3:c.4895dup MANE Select NP_000341.2:p.Asn1632LysfsTer14
Search 100 bp 5'
Search 100 bp 3'