Canonical Allele Identifier: CA2578139798
Gene: DSPP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612386del , CM000666.2:g.87612386del GRCh38
NC_000004.11:g.88533538del , CM000666.1:g.88533538del GRCh37
NC_000004.10:g.88752562del NCBI36
NG_011595.1:g.8858del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.200del MANE Select ENSP00000498766.1:p.Gly67GlufsTer22
ENST00000282478.7:c.200del ENSP00000282478.7:p.Gly67GlufsTer22
ENST00000399271.5:c.200del ENSP00000382213.1:p.Gly67GlufsTer22
NM_014208.3:c.200del MANE Select NP_055023.2:p.Gly67GlufsTer22
Search 100 bp 5'
Search 100 bp 3'