Canonical Allele Identifier: CA1474384355
Gene: DSPP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612234C= , CM000666.2:g.87612234C= GRCh38
NC_000004.11:g.88533386C= , CM000666.1:g.88533386C= GRCh37
NC_000004.10:g.88752410C= NCBI36
NG_011595.1:g.8706C=

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.135+46C= MANE Select ENSP00000498766.1:n.135+46C=
ENST00000282478.7:c.135+46C= ENSP00000282478.7:n.135+46C=
ENST00000399271.5:c.135+46C= ENSP00000382213.1:n.135+46C=
NM_014208.3:c.135+46C= MANE Select NP_055023.2:n.135+46C=
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