Canonical Allele Identifier: CA2582798722

Gene: TRMT1

Linked Data

• gnomAD v4: 19-13109972-CCCACACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13109974_13109980del , CM000681.2:g.13109974_13109980del	GRCh38
NC_000019.9:g.13220788_13220794del , CM000681.1:g.13220788_13220794del	GRCh37
NC_000019.8:g.13081788_13081794del	NCBI36
NG_054900.1:g.12589_12595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357720.9:c.1042_1048del MANE Select	ENSP00000350352.4:p.Cys348AlafsTer?
ENST00000221504.12:c.1020-141_1020-135del	ENSP00000221504.7:n.1020-141_1020-135del
ENST00000357720.8:c.1042_1048del	ENSP00000350352.4:p.Cys348AlafsTer?
ENST00000437766.5:c.1042_1048del	ENSP00000416149.1:p.Cys348AlafsTer?
ENST00000587487.5:c.400_406del	ENSP00000465370.1:p.Cys134AlafsTer?
ENST00000588511.5:n.1227_1233del
ENST00000592062.5:c.1042_1048del	ENSP00000466967.1:p.Cys348AlafsTer?
ENST00000593157.5:n.1071_1077del
NM_001136035.2:c.1042_1048del	NP_001129507.1:p.Cys348AlafsTer?
NM_001142554.1:c.1020-141_1020-135del	NP_001136026.1:n.1020-141_1020-135del
NM_017722.3:c.1042_1048del	NP_060192.1:p.Cys348AlafsTer?
XM_005259983.1:c.1020-141_1020-135del	XP_005260040.1:n.1020-141_1020-135del
XM_006722793.2:c.400_406del	XP_006722856.1:p.Cys134AlafsTer?
XM_011528124.1:c.934_940del	XP_011526426.1:p.Cys312AlafsTer?
XM_011528125.1:c.400_406del	XP_011526427.1:p.Cys134AlafsTer?
XM_011528126.1:c.259_265del	XP_011526428.1:p.Cys87AlafsTer?
NM_001136035.3:c.1042_1048del	NP_001129507.1:p.Cys348AlafsTer?
NM_001142554.2:c.1020-141_1020-135del	NP_001136026.1:n.1020-141_1020-135del
NM_001351760.1:c.1020-141_1020-135del	NP_001338689.1:n.1020-141_1020-135del
NM_001351761.1:c.934_940del	NP_001338690.1:p.Cys312AlafsTer?
NM_001351762.1:c.259_265del	NP_001338691.1:p.Cys87AlafsTer?
NM_017722.4:c.1042_1048del	NP_060192.1:p.Cys348AlafsTer?
XM_024451587.1:c.400_406del	XP_024307355.1:p.Cys134AlafsTer?
XM_024451588.1:c.400_406del	XP_024307356.1:p.Cys134AlafsTer?
XM_024451589.1:c.400_406del	XP_024307357.1:p.Cys134AlafsTer?
XM_024451590.1:c.378-141_378-135del	XP_024307358.1:n.378-141_378-135del
XM_024451591.1:c.259_265del	XP_024307359.1:p.Cys87AlafsTer?
XM_024451592.1:c.259_265del	XP_024307360.1:p.Cys87AlafsTer?
XM_024451593.1:c.259_265del	XP_024307361.1:p.Cys87AlafsTer?
XR_002958328.1:n.1146-141_1146-135del
XR_002958329.1:n.845-141_845-135del
NM_001136035.4:c.1042_1048del MANE Select	NP_001129507.1:p.Cys348AlafsTer?
NM_001142554.3:c.1020-141_1020-135del	NP_001136026.1:n.1020-141_1020-135del
NM_001351760.2:c.1020-141_1020-135del	NP_001338689.1:n.1020-141_1020-135del
NM_001351761.2:c.934_940del	NP_001338690.1:p.Cys312AlafsTer?
NM_001351762.2:c.259_265del	NP_001338691.1:p.Cys87AlafsTer?
NM_017722.5:c.1042_1048del	NP_060192.1:p.Cys348AlafsTer?