Canonical Allele Identifier: CA2573138371
Gene: DSPP HGNC NCBI

Linked Data

ClinVar Variation Id: 1430198
ClinVar RCV Id: RCV001931382
dbSNP Id: rs2109995373
gnomAD v4: 4-87612166-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612168del , CM000666.2:g.87612168del GRCh38
NC_000004.11:g.88533320del , CM000666.1:g.88533320del GRCh37
NC_000004.10:g.88752344del NCBI36
NG_011595.1:g.8640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.115del MANE Select ENSP00000498766.1:p.Arg39AspfsTer10
ENST00000282478.7:c.115del ENSP00000282478.7:p.Arg39AspfsTer10
ENST00000399271.5:c.115del ENSP00000382213.1:p.Arg39AspfsTer10
NM_014208.3:c.115del MANE Select NP_055023.2:p.Arg39AspfsTer10
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