Canonical Allele Identifier: CA645372179
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065685
ClinVar RCV Id: RCV001376281
dbSNP Id: rs2101069758
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056688_94056691delinsCCT , CM000663.2:g.94056688_94056691delinsCCT GRCh38
NC_000001.10:g.94522244_94522247delinsCCT , CM000663.1:g.94522244_94522247delinsCCT GRCh37
NC_000001.9:g.94294832_94294835delinsCCT NCBI36
NG_009073.1:g.69459_69462delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2292_2295delinsAGG MANE Select ENSP00000359245.3:p.Cys764Ter
ENST00000649773.1:c.2161-1376_2161-1373delinsAGG ENSP00000496882.1:n.2161-1376_2161-1373delinsAGG
ENST00000370225.3:c.2292_2295delinsAGG ENSP00000359245.3:p.Cys764Ter
ENST00000536513.5:c.-65+6483_-65+6486delinsAGG ENSP00000439707.2:n.-65+6483_-65+6486delinsAGG
NM_000350.2:c.2292_2295delinsAGG NP_000341.2:p.Cys764Ter
NM_000350.3:c.2292_2295delinsAGG MANE Select NP_000341.2:p.Cys764Ter
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