Canonical Allele Identifier: CA2560114701
Gene: DSPP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612658_87612659insAAATGAAATATATTACAT , CM000666.2:g.87612658_87612659insAAATGAAATATATTACAT GRCh38
NC_000004.11:g.88533810_88533811insAAATGAAATATATTACAT , CM000666.1:g.88533810_88533811insAAATGAAATATATTACAT GRCh37
NC_000004.10:g.88752834_88752835insAAATGAAATATATTACAT NCBI36
NG_011595.1:g.9130_9131insAAATGAAATATATTACAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.472_473insAAATGAAATATATTACAT MANE Select ENSP00000498766.1:p.Thr158delinsLysMetLysTyrIleThrSer
ENST00000282478.7:c.472_473insAAATGAAATATATTACAT ENSP00000282478.7:p.Thr158delinsLysMetLysTyrIleThrSer
ENST00000399271.5:c.472_473insAAATGAAATATATTACAT ENSP00000382213.1:p.Thr158delinsLysMetLysTyrIleThrSer
NM_014208.3:c.472_473insAAATGAAATATATTACAT MANE Select NP_055023.2:p.Thr158delinsLysMetLysTyrIleThrSer