Canonical Allele Identifier: CA273243

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 165492
• ClinVar RCV Id: RCV000152065 ; RCV000371920 ; RCV000412773 ; RCV000623444 ; RCV001375379
• dbSNP Id: rs727503493
• ExAC: 21:43809151 TG / T
• gnomAD v2: 21-43809151-TG-T
• gnomAD v3: 21-42389042-TG-T
• gnomAD v4: 21-42389042-TG-T
• MyVariant Identifiers: chr21:g.43809152del (hg19) ; chr21:g.42389044del (hg38) ; chr21:g.42389043del (hg38)
• PubMed: PMID:11907649 ; PMID:12920079 ; PMID:15447792 ; PMID:17981648 ; PMID:19170735 ; PMID:21534946 ; PMID:21786053 ; PMID:26036852 ; PMID:26408194 ; PMID:28263784

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42389044del , CM000683.2:g.42389044del	GRCh38
NC_000021.8:g.43809153del , CM000683.1:g.43809153del	GRCh37
NC_000021.7:g.42682222del	NCBI36
NG_011629.1:g.12049del
NG_011629.2:g.12049del

Transcript Alleles

HGVS	Amino-acid change
ENST00000433957.7:c.208del	ENSP00000411013.3:p.His70ThrfsTer19
ENST00000644384.2:c.208del MANE Select	ENSP00000494414.1:p.His70ThrfsTer19
ENST00000652415.1:c.208del	ENSP00000498756.1:p.His70ThrfsTer19
ENST00000291532.7:c.208del	ENSP00000291532.3:p.His70ThrfsTer19
ENST00000398397.3:c.208del	ENSP00000381434.3:p.His70ThrfsTer19
ENST00000398405.5:c.202del	ENSP00000381442.1:p.His68ThrfsTer19
ENST00000433957.6:c.208del	ENSP00000411013.2:p.His70ThrfsTer19
ENST00000474596.5:n.76del
ENST00000482761.1:n.495del
NM_001256317.1:c.208del	NP_001243246.1:p.His70ThrfsTer19
NM_024022.2:c.208del	NP_076927.1:p.His70ThrfsTer19
NM_032404.2:c.-174del	NP_115780.1:n.-174del
NM_032405.1:c.208del	NP_115781.1:p.His70ThrfsTer19
NR_046020.1:n.1164del
NM_001256317.2:c.208del	NP_001243246.1:p.His70ThrfsTer19
NM_024022.3:c.208del	NP_076927.1:p.His70ThrfsTer19
NM_032405.2:c.208del	NP_115781.1:p.His70ThrfsTer19
NM_001256317.3:c.208del MANE Select	NP_001243246.1:p.His70ThrfsTer19
NM_024022.4:c.208del	NP_076927.1:p.His70ThrfsTer19
NM_032404.3:c.-174del	NP_115780.1:n.-174del