Canonical Allele Identifier: CA440294198
Gene: DSPP HGNC NCBI

Linked Data

COSMIC: COSM405137
MyVariant Identifiers: chr4:g.88533592del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612442del , CM000666.2:g.87612442del GRCh38
NC_000004.11:g.88533594del , CM000666.1:g.88533594del GRCh37
NC_000004.10:g.88752618del NCBI36
NG_011595.1:g.8914del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.256del MANE Select ENSP00000498766.1:p.Ala86GlnfsTer3
ENST00000282478.7:c.256del ENSP00000282478.7:p.Ala86GlnfsTer3
ENST00000399271.5:c.256del ENSP00000382213.1:p.Ala86GlnfsTer3
NM_014208.3:c.256del MANE Select NP_055023.2:p.Ala86GlnfsTer3