Canonical Allele Identifier: CA2987846691

Gene: TMPRSS3

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42376570del , CM000683.2:g.42376570del	GRCh38
NC_000021.8:g.43796679del , CM000683.1:g.43796679del	GRCh37
NC_000021.7:g.42669748del	NCBI36
NG_011629.1:g.24522del
NG_011629.2:g.24522del

Transcript Alleles

HGVS	Amino-acid Change
NM_001256317.3:c.1162del MANE Select	NP_001243246.1:p.Tyr388ThrfsTer2
ENST00000644384.2:c.1162del MANE Select	ENSP00000494414.1:p.Tyr388ThrfsTer2
NM_001256317.1:c.1162del	NP_001243246.1:p.Tyr388ThrfsTer2
NM_001256317.2:c.1162del	NP_001243246.1:p.Tyr388ThrfsTer2
NM_024022.2:c.1165del	NP_076927.1:p.Tyr389ThrfsTer2
NM_024022.3:c.1165del	NP_076927.1:p.Tyr389ThrfsTer2
NM_024022.4:c.1165del	NP_076927.1:p.Tyr389ThrfsTer2
NM_032404.2:c.784del	NP_115780.1:p.Tyr262ThrfsTer2
NM_032404.3:c.784del	NP_115780.1:p.Tyr262ThrfsTer2
NR_046020.1:n.2121del
ENST00000291532.7:c.1165del	ENSP00000291532.3:p.Tyr389ThrfsTer2
ENST00000398405.5:c.1156del	ENSP00000381442.1:p.Tyr386ThrfsTer2
ENST00000433957.6:c.1162del	ENSP00000411013.2:p.Tyr388ThrfsTer2
ENST00000433957.7:c.1165del	ENSP00000411013.3:p.Tyr389ThrfsTer2
ENST00000474596.5:n.1033del
ENST00000476848.5:n.1897del
ENST00000482761.1:n.1452del
ENST00000652415.1:c.1162del	ENSP00000498756.1:p.Tyr388ThrfsTer2