Canonical Allele Identifier: CA440294086
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612375_87612380del , CM000666.2:g.87612375_87612380del GRCh38
NC_000004.11:g.88533527_88533532del , CM000666.1:g.88533527_88533532del GRCh37
NC_000004.10:g.88752551_88752556del NCBI36
NG_011595.1:g.8847_8852del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.189_194del MANE Select ENSP00000498766.1:p.Glu63_Gly64del
ENST00000282478.7:c.189_194del ENSP00000282478.7:p.Glu63_Gly64del
ENST00000399271.5:c.189_194del ENSP00000382213.1:p.Glu63_Gly64del
NM_014208.3:c.189_194del MANE Select NP_055023.2:p.Glu63_Gly64del