Canonical Allele Identifier: CA1139658567
Community Standard Title: NM_014208.3(DSPP):c.3535_3537delinsGAC (p.Asn1179Asp)
Gene: DSPP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87616197_87616199delinsGAC , CM000666.2:g.87616197_87616199delinsGAC GRCh38
NC_000004.11:g.88537349_88537351delinsGAC , CM000666.1:g.88537349_88537351delinsGAC GRCh37
NC_000004.10:g.88756373_88756375delinsGAC NCBI36
NG_011595.1:g.12669_12671delinsGAC

Transcript Alleles

HGVS Amino-acid Change
NM_014208.3:c.3535_3537delinsGAC MANE Select NP_055023.2:p.Asn1179Asp
ENST00000651931.1:c.3535_3537delinsGAC MANE Select ENSP00000498766.1:p.Asn1179Asp
ENST00000282478.7:c.3535_3537delinsGAC ENSP00000282478.7:p.Asn1179Asp
ENST00000399271.5:c.3535_3537delinsGAC ENSP00000382213.1:p.Asn1179Asp