Canonical Allele Identifier: CA2580081081
Gene: TPRN HGNC NCBI

Linked Data

ClinVar Variation Id: 2446689
ClinVar RCV Id: RCV003159519
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137199335_137199337del , CM000671.2:g.137199335_137199337del GRCh38
NC_000009.11:g.140093787_140093789del , CM000671.1:g.140093787_140093789del GRCh37
NC_000009.10:g.139213608_139213610del NCBI36
NG_027801.1:g.6377_6379del
NG_027801.2:g.9859_9861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1377_1379del MANE Select ENSP00000387100.4:p.Asp459del
ENST00000333046.8:c.771_773del ENSP00000327617.4:p.Asp257del
ENST00000409012.4:c.1377_1379del ENSP00000387100.4:p.Asp459del
ENST00000541945.1:n.90+4769_90+4771del
NM_001128228.2:c.1377_1379del NP_001121700.2:p.Asp459del
NM_001128228.3:c.1377_1379del MANE Select NP_001121700.2:p.Asp459del
Search 100 bp 5'
Search 100 bp 3'