Canonical Allele Identifier: CA2671358378
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612277_87612286del , CM000666.2:g.87612277_87612286del GRCh38
NC_000004.11:g.88533429_88533438del , CM000666.1:g.88533429_88533438del GRCh37
NC_000004.10:g.88752453_88752462del NCBI36
NG_011595.1:g.8749_8758del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.136-45_136-36del MANE Select ENSP00000498766.1:n.136-45_136-36del
ENST00000282478.7:c.136-45_136-36del ENSP00000282478.7:n.136-45_136-36del
ENST00000399271.5:c.136-45_136-36del ENSP00000382213.1:n.136-45_136-36del
NM_014208.3:c.136-45_136-36del MANE Select NP_055023.2:n.136-45_136-36del