Canonical Allele Identifier: CA113911
Gene: TPRN HGNC NCBI

Linked Data

ClinVar Variation Id: 138
ClinVar RCV Id: RCV000000161
dbSNP Id: rs387906222
gnomAD v4: 9-137199181-TC-T
MyVariant Identifiers: chr9:g.140093634del (hg19) chr9:g.137199182del (hg38)
PubMed: PMID:20170898
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199184del , CM000671.2:g.137199184del GRCh38
NC_000009.11:g.140093636del , CM000671.1:g.140093636del GRCh37
NC_000009.10:g.139213457del NCBI36
NG_027801.1:g.6530del
NG_027801.2:g.10012del

Transcript Alleles

HGVS Amino-acid change
ENST00000409012.6:c.1530del MANE Select ENSP00000387100.4:p.Thr511LeufsTer?
ENST00000333046.8:c.924del ENSP00000327617.4:p.Thr309LeufsTer?
ENST00000409012.4:c.1530del ENSP00000387100.4:p.Thr511LeufsTer?
ENST00000541945.1:n.90+4922del
NM_001128228.2:c.1530del NP_001121700.2:p.Thr511LeufsTer?
NM_001128228.3:c.1530del MANE Select NP_001121700.2:p.Thr511LeufsTer?
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