Canonical Allele Identifier: CA261817
Gene: TMPRSS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 517148
ClinVar RCV Id: RCV003444606
dbSNP Id: rs397517376
ExAC: 21:43804115 A / AT
gnomAD v2: 21-43804115-A-AT
gnomAD v3: 21-42384006-A-AT
gnomAD v4: 21-42384006-A-AT
MyVariant Identifiers: chr21:g.43804116dup (hg19) chr21:g.43804115_43804116insT (hg19) chr21:g.42384007dup (hg38) chr21:g.42384006_42384007insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42384007dup , CM000683.2:g.42384007dup GRCh38
NC_000021.8:g.43804116dup , CM000683.1:g.43804116dup GRCh37
NC_000021.7:g.42677185dup NCBI36
NG_011629.1:g.17085dup
NG_011629.2:g.17085dup

Transcript Alleles

HGVS Amino-acid change
ENST00000433957.7:c.579dup ENSP00000411013.3:p.Cys194MetfsTer17
ENST00000644384.2:c.579dup MANE Select ENSP00000494414.1:p.Cys194MetfsTer17
ENST00000652415.1:c.579dup ENSP00000498756.1:p.Cys194MetfsTer17
ENST00000291532.7:c.579dup ENSP00000291532.3:p.Cys194MetfsTer17
ENST00000398397.3:c.579dup ENSP00000381434.3:p.Cys194MetfsTer17
ENST00000398405.5:c.573dup ENSP00000381442.1:p.Cys192MetfsTer17
ENST00000433957.6:c.579dup ENSP00000411013.2:p.Cys194MetfsTer17
ENST00000474596.5:n.447dup
ENST00000482761.1:n.866dup
NM_001256317.1:c.579dup NP_001243246.1:p.Cys194MetfsTer17
NM_024022.2:c.579dup NP_076927.1:p.Cys194MetfsTer17
NM_032404.2:c.198dup NP_115780.1:p.Cys67MetfsTer17
NM_032405.1:c.579dup NP_115781.1:p.Cys194MetfsTer17
NR_046020.1:n.1535dup
NM_001256317.2:c.579dup NP_001243246.1:p.Cys194MetfsTer17
NM_024022.3:c.579dup NP_076927.1:p.Cys194MetfsTer17
NM_032405.2:c.579dup NP_115781.1:p.Cys194MetfsTer17
NM_001256317.3:c.579dup MANE Select NP_001243246.1:p.Cys194MetfsTer17
NM_024022.4:c.579dup NP_076927.1:p.Cys194MetfsTer17
NM_032404.3:c.198dup NP_115780.1:p.Cys67MetfsTer17
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