Canonical Allele Identifier: CA2739265651

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 2779691
• ClinVar RCV Id: RCV003665270

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42383058_42383059delinsCA , CM000683.2:g.42383058_42383059delinsCA	GRCh38
NC_000021.8:g.43803167_43803168delinsCA , CM000683.1:g.43803167_43803168delinsCA	GRCh37
NC_000021.7:g.42676236_42676237delinsCA	NCBI36
NG_011629.1:g.18033_18034delinsTG
NG_011629.2:g.18033_18034delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.756_757delinsTG	ENSP00000411013.3:p.Ile253Val
ENST00000644384.2:c.756_757delinsTG MANE Select	ENSP00000494414.1:p.Ile253Val
ENST00000652415.1:c.756_757delinsTG	ENSP00000498756.1:p.Ile253Val
ENST00000291532.7:c.756_757delinsTG	ENSP00000291532.3:p.Ile253Val
ENST00000398397.3:c.756_757delinsTG	ENSP00000381434.3:p.Ile253Val
ENST00000398405.5:c.750_751delinsTG	ENSP00000381442.1:p.Ile251Val
ENST00000433957.6:c.756_757delinsTG	ENSP00000411013.2:p.Ile253Val
ENST00000474596.5:n.624_625delinsTG
ENST00000476848.5:n.693_694delinsTG
ENST00000482761.1:n.1043_1044delinsTG
NM_001256317.1:c.756_757delinsTG	NP_001243246.1:p.Ile253Val
NM_024022.2:c.756_757delinsTG	NP_076927.1:p.Ile253Val
NM_032404.2:c.375_376delinsTG	NP_115780.1:p.Ile126Val
NM_032405.1:c.756_757delinsTG	NP_115781.1:p.Ile253Val
NR_046020.1:n.1712_1713delinsTG
NM_001256317.2:c.756_757delinsTG	NP_001243246.1:p.Ile253Val
NM_024022.3:c.756_757delinsTG	NP_076927.1:p.Ile253Val
NM_032405.2:c.756_757delinsTG	NP_115781.1:p.Ile253Val
NM_001256317.3:c.756_757delinsTG MANE Select	NP_001243246.1:p.Ile253Val
NM_024022.4:c.756_757delinsTG	NP_076927.1:p.Ile253Val
NM_032404.3:c.375_376delinsTG	NP_115780.1:p.Ile126Val