Canonical Allele Identifier: CA1474384507
Gene: DSPP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612577_87612578delinsAT , CM000666.2:g.87612577_87612578delinsAT GRCh38
NC_000004.11:g.88533729_88533730delinsAT , CM000666.1:g.88533729_88533730delinsAT GRCh37
NC_000004.10:g.88752753_88752754delinsAT NCBI36
NG_011595.1:g.9049_9050delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.391_392delinsAT MANE Select ENSP00000498766.1:p.Ile131=
ENST00000282478.7:c.391_392delinsAT ENSP00000282478.7:p.Ile131=
ENST00000399271.5:c.391_392delinsAT ENSP00000382213.1:p.Ile131=
NM_014208.3:c.391_392delinsAT MANE Select NP_055023.2:p.Ile131=
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