Canonical Allele Identifier: CA2578139672
Gene: DSPP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87610851G>A , CM000666.2:g.87610851G>A GRCh38
NC_000004.11:g.88532003G>A , CM000666.1:g.88532003G>A GRCh37
NC_000004.10:g.88751027G>A NCBI36
NG_011595.1:g.7323G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.-28-30G>A MANE Select ENSP00000498766.1:n.-28-30G>A
ENST00000399271.5:c.-28-30G>A ENSP00000382213.1:n.-28-30G>A
NM_014208.3:c.-28-30G>A MANE Select NP_055023.2:n.-28-30G>A
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