Canonical Allele Identifier: CA2671358301
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612015_87612019del , CM000666.2:g.87612015_87612019del GRCh38
NC_000004.11:g.88533167_88533171del , CM000666.1:g.88533167_88533171del GRCh37
NC_000004.10:g.88752191_88752195del NCBI36
NG_011595.1:g.8487_8491del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.52-90_52-86del MANE Select ENSP00000498766.1:n.52-90_52-86del
ENST00000282478.7:c.52-90_52-86del ENSP00000282478.7:n.52-90_52-86del
ENST00000399271.5:c.52-90_52-86del ENSP00000382213.1:n.52-90_52-86del
NM_014208.3:c.52-90_52-86del MANE Select NP_055023.2:n.52-90_52-86del