Canonical Allele Identifier: CA2817979666
Gene: TMPRSS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42390006_42390009dup , CM000683.2:g.42390006_42390009dup GRCh38
NC_000021.8:g.43810115_43810118dup , CM000683.1:g.43810115_43810118dup GRCh37
NC_000021.7:g.42683184_42683187dup NCBI36
NG_011629.1:g.11083_11086dup
NG_011629.2:g.11083_11086dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000433957.7:c.123_126dup ENSP00000411013.3:p.Leu43ValfsTer?
ENST00000644384.2:c.123_126dup MANE Select ENSP00000494414.1:p.Leu43ValfsTer?
ENST00000652415.1:c.123_126dup ENSP00000498756.1:p.Leu43ValfsTer?
ENST00000291532.7:c.123_126dup ENSP00000291532.3:p.Leu43ValfsTer?
ENST00000398397.3:c.123_126dup ENSP00000381434.3:p.Leu43ValfsTer?
ENST00000398405.5:c.117_120dup ENSP00000381442.1:p.Leu41ValfsTer?
ENST00000433957.6:c.123_126dup ENSP00000411013.2:p.Leu43ValfsTer?
ENST00000482761.1:n.410_413dup
NM_001256317.1:c.123_126dup NP_001243246.1:p.Leu43ValfsTer?
NM_024022.2:c.123_126dup NP_076927.1:p.Leu43ValfsTer?
NM_032405.1:c.123_126dup NP_115781.1:p.Leu43ValfsTer?
NR_046020.1:n.1079_1082dup
NM_001256317.2:c.123_126dup NP_001243246.1:p.Leu43ValfsTer?
NM_024022.3:c.123_126dup NP_076927.1:p.Leu43ValfsTer?
NM_032405.2:c.123_126dup NP_115781.1:p.Leu43ValfsTer?
NM_001256317.3:c.123_126dup MANE Select NP_001243246.1:p.Leu43ValfsTer?
NM_024022.4:c.123_126dup NP_076927.1:p.Leu43ValfsTer?