Canonical Allele Identifier: CA2578139668
Gene: DSPP HGNC NCBI

Linked Data

gnomAD v4: 4-87610822-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87610822A>G , CM000666.2:g.87610822A>G GRCh38
NC_000004.11:g.88531974A>G , CM000666.1:g.88531974A>G GRCh37
NC_000004.10:g.88750998A>G NCBI36
NG_011595.1:g.7294A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651931.1:c.-28-59A>G MANE Select ENSP00000498766.1:n.-28-59A>G
ENST00000399271.5:c.-28-59A>G ENSP00000382213.1:n.-28-59A>G
NM_014208.3:c.-28-59A>G MANE Select NP_055023.2:n.-28-59A>G
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