Canonical Allele Identifier: CA591373063
Gene: TPRN HGNC NCBI
ClinVar RCV:
RCV001814560
RCV002568244
ClinVar Variation:
1180831
dbSNP:
387906221
gnomAD v2:
9:140094928 A / AGCCGCGCCCCC
gnomAD v3:
9:137200476 A / AGCCGCGCCCCC
gnomAD v4:
chr9-137200476-A-AGCCGCGCCCCC
Joint Max Group AF 0.00004086 (NFE)
Genomes Max Group AF 0.00002923 (NFE)
Exomes Max Group AF 0.00003913 (NFE)
MyVariant.info:
GRCh38 chr9:g.137200487_137200488insGCCGCGCCCCC
GRCh38 chr9:g.137200476_137200477insGCCGCGCCCCC
GRCh37 chr9:g.140094939_140094940insGCCGCGCCCCC
GRCh37 chr9:g.140094928_140094929insGCCGCGCCCCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137200496_137200506dup , CM000671.2:g.137200496_137200506dup GRCh38
NC_000009.11:g.140094948_140094958dup , CM000671.1:g.140094948_140094958dup GRCh37
NC_000009.10:g.139214769_139214779dup NCBI36
NG_027801.1:g.5225_5235dup
NG_027801.2:g.8707_8717dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.225_235dup MANE Select ENSP00000387100.4:p.Leu79ArgfsTer?
ENST00000409012.4:c.225_235dup ENSP00000387100.4:p.Leu79ArgfsTer?
ENST00000541945.1:n.90+3617_90+3627dup
NM_001128228.2:c.225_235dup NP_001121700.2:p.Leu79ArgfsTer?
NM_001128228.3:c.225_235dup MANE Select NP_001121700.2:p.Leu79ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'