Canonical Allele Identifier: CA113910
Gene: TPRN HGNC NCBI

Linked Data

ClinVar Variation Id: 137
ClinVar RCV Id: RCV000000160 RCV001008132 RCV004017216
dbSNP Id: rs387906221
gnomAD v2: 9-140094928-AGCCGCGCCCCC-A
gnomAD v3: 9-137200476-AGCCGCGCCCCC-A
gnomAD v4: 9-137200476-AGCCGCGCCCCC-A
MyVariant Identifiers: chr9:g.140094929_140094939del (hg19) chr9:g.137200477_137200487del (hg38)
PubMed: PMID:20170898 PMID:20170899
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137200496_137200506del , CM000671.2:g.137200496_137200506del GRCh38
NC_000009.11:g.140094948_140094958del , CM000671.1:g.140094948_140094958del GRCh37
NC_000009.10:g.139214769_139214779del NCBI36
NG_027801.1:g.5225_5235del
NG_027801.2:g.8707_8717del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.225_235del MANE Select ENSP00000387100.4:p.Gly76AlafsTer?
ENST00000409012.4:c.225_235del ENSP00000387100.4:p.Gly76AlafsTer?
ENST00000541945.1:n.90+3617_90+3627del
NM_001128228.2:c.225_235del NP_001121700.2:p.Gly76AlafsTer?
NM_001128228.3:c.225_235del MANE Select NP_001121700.2:p.Gly76AlafsTer?
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