Canonical Allele Identifier: CA2501186085
Gene: TMPRSS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42382017_42382018del , CM000683.2:g.42382017_42382018del GRCh38
NC_000021.8:g.43802126_43802127del , CM000683.1:g.43802126_43802127del GRCh37
NC_000021.7:g.42675195_42675196del NCBI36
NG_011629.1:g.19076_19077del
NG_011629.2:g.19076_19077del

Transcript Alleles

HGVS Amino-acid Change
ENST00000433957.7:c.952+49_952+50del ENSP00000411013.3:n.952+49_952+50del
ENST00000644384.2:c.952+49_952+50del MANE Select ENSP00000494414.1:n.952+49_952+50del
ENST00000652415.1:c.952+49_952+50del ENSP00000498756.1:n.952+49_952+50del
ENST00000291532.7:c.952+49_952+50del ENSP00000291532.3:n.952+49_952+50del
ENST00000398397.3:c.1001_1002del ENSP00000381434.3:p.Glu334GlyfsTer7
ENST00000398405.5:c.946+49_946+50del ENSP00000381442.1:n.946+49_946+50del
ENST00000433957.6:c.952+49_952+50del ENSP00000411013.2:n.952+49_952+50del
ENST00000474596.5:n.820+49_820+50del
ENST00000476848.5:n.1687+49_1687+50del
ENST00000478680.1:n.278_279del
ENST00000482761.1:n.1239+49_1239+50del
NM_001256317.1:c.952+49_952+50del NP_001243246.1:n.952+49_952+50del
NM_024022.2:c.952+49_952+50del NP_076927.1:n.952+49_952+50del
NM_032404.2:c.571+49_571+50del NP_115780.1:n.571+49_571+50del
NM_032405.1:c.1001_1002del NP_115781.1:p.Glu334GlyfsTer7
NR_046020.1:n.1908+49_1908+50del
NM_001256317.2:c.952+49_952+50del NP_001243246.1:n.952+49_952+50del
NM_024022.3:c.952+49_952+50del NP_076927.1:n.952+49_952+50del
NM_032405.2:c.1001_1002del NP_115781.1:p.Glu334GlyfsTer7
NM_001256317.3:c.952+49_952+50del MANE Select NP_001243246.1:n.952+49_952+50del
NM_024022.4:c.952+49_952+50del NP_076927.1:n.952+49_952+50del
NM_032404.3:c.571+49_571+50del NP_115780.1:n.571+49_571+50del