Canonical Allele Identifier: CA2578139761
Gene: DSPP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612143dup , CM000666.2:g.87612143dup GRCh38
NC_000004.11:g.88533295dup , CM000666.1:g.88533295dup GRCh37
NC_000004.10:g.88752319dup NCBI36
NG_011595.1:g.8615dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.90dup MANE Select ENSP00000498766.1:p.Ser31IlefsTer17
ENST00000282478.7:c.90dup ENSP00000282478.7:p.Ser31IlefsTer17
ENST00000399271.5:c.90dup ENSP00000382213.1:p.Ser31IlefsTer17
NM_014208.3:c.90dup MANE Select NP_055023.2:p.Ser31IlefsTer17