Canonical Allele Identifier: CA2671358295
Gene: DSPP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612010_87612012del , CM000666.2:g.87612010_87612012del GRCh38
NC_000004.11:g.88533162_88533164del , CM000666.1:g.88533162_88533164del GRCh37
NC_000004.10:g.88752186_88752188del NCBI36
NG_011595.1:g.8482_8484del

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.52-95_52-93del MANE Select ENSP00000498766.1:n.52-95_52-93del
ENST00000282478.7:c.52-95_52-93del ENSP00000282478.7:n.52-95_52-93del
ENST00000399271.5:c.52-95_52-93del ENSP00000382213.1:n.52-95_52-93del
NM_014208.3:c.52-95_52-93del MANE Select NP_055023.2:n.52-95_52-93del