Canonical Allele Identifier: CA638062327

Gene: TMPRSS3

Linked Data

• dbSNP Id: rs1301762314
• gnomAD v2: 21-43805579-AC-A
• gnomAD v4: 21-42385470-AC-A
• MyVariant Identifiers: chr21:g.43805580del (hg19) ; chr21:g.42385471del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42385471del , CM000683.2:g.42385471del	GRCh38
NC_000021.8:g.43805580del , CM000683.1:g.43805580del	GRCh37
NC_000021.7:g.42678649del	NCBI36
NG_011629.1:g.15621del
NG_011629.2:g.15621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.510del	ENSP00000411013.3:p.Ser171ProfsTer11
ENST00000644384.2:c.510del MANE Select	ENSP00000494414.1:p.Ser171ProfsTer11
ENST00000652415.1:c.510del	ENSP00000498756.1:p.Ser171ProfsTer11
ENST00000291532.7:c.510del	ENSP00000291532.3:p.Ser171ProfsTer11
ENST00000398397.3:c.510del	ENSP00000381434.3:p.Ser171ProfsTer11
ENST00000398405.5:c.504del	ENSP00000381442.1:p.Ser169ProfsTer11
ENST00000433957.6:c.510del	ENSP00000411013.2:p.Ser171ProfsTer11
ENST00000474596.5:n.378del
ENST00000482761.1:n.797del
NM_001256317.1:c.510del	NP_001243246.1:p.Ser171ProfsTer11
NM_024022.2:c.510del	NP_076927.1:p.Ser171ProfsTer11
NM_032404.2:c.129del	NP_115780.1:p.Ser44ProfsTer11
NM_032405.1:c.510del	NP_115781.1:p.Ser171ProfsTer11
NR_046020.1:n.1466del
NM_001256317.2:c.510del	NP_001243246.1:p.Ser171ProfsTer11
NM_024022.3:c.510del	NP_076927.1:p.Ser171ProfsTer11
NM_032405.2:c.510del	NP_115781.1:p.Ser171ProfsTer11
NM_001256317.3:c.510del MANE Select	NP_001243246.1:p.Ser171ProfsTer11
NM_024022.4:c.510del	NP_076927.1:p.Ser171ProfsTer11
NM_032404.3:c.129del	NP_115780.1:p.Ser44ProfsTer11