Canonical Allele Identifier: CA2578139719
Gene: DSPP HGNC NCBI

Linked Data

gnomAD v4: 4-87612012-T-TGA
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87612013_87612014insAG , CM000666.2:g.87612013_87612014insAG GRCh38
NC_000004.11:g.88533165_88533166insAG , CM000666.1:g.88533165_88533166insAG GRCh37
NC_000004.10:g.88752189_88752190insAG NCBI36
NG_011595.1:g.8485_8486insAG

Transcript Alleles

HGVS Amino-acid change
ENST00000651931.1:c.52-92_52-91insAG MANE Select ENSP00000498766.1:n.52-92_52-91insAG
ENST00000282478.7:c.52-92_52-91insAG ENSP00000282478.7:n.52-92_52-91insAG
ENST00000399271.5:c.52-92_52-91insAG ENSP00000382213.1:n.52-92_52-91insAG
NM_014208.3:c.52-92_52-91insAG MANE Select NP_055023.2:n.52-92_52-91insAG
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