Canonical Allele Identifier: CA5362732

Gene: TPRN

Linked Data

• ClinVar Variation Id: 2071144
• ClinVar RCV Id: RCV002949226
• dbSNP Id: rs772232586
• ExAC: 9:140093703 GGGCCTGGCAGGGTGCAGA / G
• gnomAD v2: 9-140093703-GGGCCTGGCAGGGTGCAGA-G
• gnomAD v3: 9-137199251-GGGCCTGGCAGGGTGCAGA-G
• gnomAD v4: 9-137199251-GGGCCTGGCAGGGTGCAGA-G
• MyVariant Identifiers: chr9:g.140093704_140093721del (hg19) ; chr9:g.137199252_137199269del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137199267_137199284del , CM000671.2:g.137199267_137199284del	GRCh38
NC_000009.11:g.140093719_140093736del , CM000671.1:g.140093719_140093736del	GRCh37
NC_000009.10:g.139213540_139213557del	NCBI36
NG_027801.1:g.6443_6460del
NG_027801.2:g.9925_9942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409012.6:c.1443_1460del MANE Select	ENSP00000387100.4:p.Leu482_Pro487del
ENST00000333046.8:c.837_854del	ENSP00000327617.4:p.Leu280_Pro285del
ENST00000409012.4:c.1443_1460del	ENSP00000387100.4:p.Leu482_Pro487del
ENST00000541945.1:n.90+4835_90+4852del
NM_001128228.2:c.1443_1460del	NP_001121700.2:p.Leu482_Pro487del
NM_001128228.3:c.1443_1460del MANE Select	NP_001121700.2:p.Leu482_Pro487del