Canonical Allele Identifier: CA2573138372
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 1474409
ClinVar RCV Id: RCV002005502
dbSNP Id: rs2109995507
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612450_87612451delinsTC , CM000666.2:g.87612450_87612451delinsTC GRCh38
NC_000004.11:g.88533602_88533603delinsTC , CM000666.1:g.88533602_88533603delinsTC GRCh37
NC_000004.10:g.88752626_88752627delinsTC NCBI36
NG_011595.1:g.8922_8923delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.264_265delinsTC MANE Select ENSP00000498766.1:p.Gly89Arg
ENST00000282478.7:c.264_265delinsTC ENSP00000282478.7:p.Gly89Arg
ENST00000399271.5:c.264_265delinsTC ENSP00000382213.1:p.Gly89Arg
NM_014208.3:c.264_265delinsTC MANE Select NP_055023.2:p.Gly89Arg
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