Canonical Allele Identifier: CA2671358292
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612009_87612020del , CM000666.2:g.87612009_87612020del GRCh38
NC_000004.11:g.88533161_88533172del , CM000666.1:g.88533161_88533172del GRCh37
NC_000004.10:g.88752185_88752196del NCBI36
NG_011595.1:g.8481_8492del

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.52-96_52-85del MANE Select ENSP00000498766.1:n.52-96_52-85del
ENST00000282478.7:c.52-96_52-85del ENSP00000282478.7:n.52-96_52-85del
ENST00000399271.5:c.52-96_52-85del ENSP00000382213.1:n.52-96_52-85del
NM_014208.3:c.52-96_52-85del MANE Select NP_055023.2:n.52-96_52-85del