Canonical Allele Identifier: CA10042137

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 340042
• ClinVar RCV Id: RCV000285337
• dbSNP Id: rs34908991
• ExAC: 21:43792292 AC / A
• gnomAD v2: 21-43792292-AC-A
• gnomAD v3: 21-42372183-AC-A
• gnomAD v4: 21-42372183-AC-A
• COSMIC: COSN20117029 ; COSN20117030 ; COSN20117031
• MyVariant Identifiers: chr21:g.43792293del (hg19) ; chr21:g.42372184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42372187del , CM000683.2:g.42372187del	GRCh38
NC_000021.8:g.43792296del , CM000683.1:g.43792296del	GRCh37
NC_000021.7:g.42665365del	NCBI36
NG_011629.1:g.28908del
NG_011629.2:g.28908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.*578del	ENSP00000411013.3:n.*578del
ENST00000644384.2:c.*578del MANE Select	ENSP00000494414.1:n.*578del
ENST00000652415.1:c.*578del	ENSP00000498756.1:n.*578del
ENST00000291532.7:c.*578del	ENSP00000291532.3:n.*578del
ENST00000398405.5:c.*578del	ENSP00000381442.1:n.*578del
ENST00000433957.6:c.*578del	ENSP00000411013.2:n.*578del
ENST00000474596.5:n.1811del
ENST00000476848.5:n.2675del
ENST00000482761.1:n.2230del
NM_001256317.1:c.*578del	NP_001243246.1:n.*578del
NM_024022.2:c.*578del	NP_076927.1:n.*578del
NM_032404.2:c.*578del	NP_115780.1:n.*578del
NR_046020.1:n.2899del
NM_001256317.2:c.*578del	NP_001243246.1:n.*578del
NM_024022.3:c.*578del	NP_076927.1:n.*578del
NM_001256317.3:c.*578del MANE Select	NP_001243246.1:n.*578del
NM_024022.4:c.*578del	NP_076927.1:n.*578del
NM_032404.3:c.*578del	NP_115780.1:n.*578del