Canonical Allele Identifier: CA5362746

Gene: TPRN

Linked Data

• ClinVar Variation Id: 1297604
• ClinVar RCV Id: RCV001723372
• dbSNP Id: rs760851760
• ExAC: 9:140093761 T / TG
• gnomAD v2: 9-140093761-T-TG
• gnomAD v3: 9-137199309-T-TG
• gnomAD v4: 9-137199309-T-TG
• MyVariant Identifiers: chr9:g.140093762_140093763insG (hg19) ; chr9:g.140093761_140093762insG (hg19) ; chr9:g.137199309_137199310insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137199315dup , CM000671.2:g.137199315dup	GRCh38
NC_000009.11:g.140093767dup , CM000671.1:g.140093767dup	GRCh37
NC_000009.10:g.139213588dup	NCBI36
NG_027801.1:g.6402dup
NG_027801.2:g.9884dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409012.6:c.1402dup MANE Select	ENSP00000387100.4:p.Gln468ProfsTer?
ENST00000333046.8:c.796dup	ENSP00000327617.4:p.Gln266ProfsTer?
ENST00000409012.4:c.1402dup	ENSP00000387100.4:p.Gln468ProfsTer?
ENST00000541945.1:n.90+4794dup
NM_001128228.2:c.1402dup	NP_001121700.2:p.Gln468ProfsTer?
NM_001128228.3:c.1402dup MANE Select	NP_001121700.2:p.Gln468ProfsTer?