Canonical Allele Identifier: CA2573147500

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 1388769
• ClinVar RCV Id: RCV001878046
• dbSNP Id: rs2134456106

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047916del , CM000673.2:g.68047916del	GRCh38
NC_000011.9:g.67815383del , CM000673.1:g.67815383del	GRCh37
NC_000011.8:g.67571959del	NCBI36
NG_007878.1:g.13901del , LRG_115:g.13901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.123del
ENST00000698254.1:c.1027del	ENSP00000513629.1:p.Leu343TrpfsTer28
ENST00000698255.1:c.1447del	ENSP00000513630.1:p.Leu483TrpfsTer28
ENST00000698256.1:c.964del
ENST00000698257.1:n.916del
ENST00000698258.1:n.633del
ENST00000698259.1:n.399del
ENST00000265686.8:c.1498del MANE Select	ENSP00000265686.3:p.Leu500TrpfsTer28
ENST00000265686.7:c.1498del	ENSP00000265686.3:p.Leu500TrpfsTer28
ENST00000525516.1:n.292del
ENST00000525724.5:n.810del
ENST00000528981.5:c.650del
ENST00000532635.5:c.850del	ENSP00000434407.1:p.Leu284TrpfsTer28
ENST00000533005.5:n.611del
NM_006019.3:c.1498del	NP_006010.2:p.Leu500TrpfsTer28
NM_006053.3:c.850del	NP_006044.1:p.Leu284TrpfsTer28
XM_005273709.2:c.1498del	XP_005273766.1:p.Leu500TrpfsTer28
XM_011544726.1:c.1498del	XP_011543028.1:p.Leu500TrpfsTer28
XM_011544727.1:c.1498del	XP_011543029.1:p.Leu500TrpfsTer28
XM_011544728.1:c.1498del	XP_011543030.1:p.Leu500TrpfsTer28
XR_949754.1:n.1502del
NM_001351059.1:c.604del	NP_001337988.1:p.Leu202TrpfsTer28
XM_024448320.1:c.1591del	XP_024304088.1:p.Leu531TrpfsTer28
XM_024448321.1:c.1591del	XP_024304089.1:p.Leu531TrpfsTer28
XM_024448322.1:c.1591del	XP_024304090.1:p.Leu531TrpfsTer28
XM_024448323.1:c.1591del	XP_024304091.1:p.Leu531TrpfsTer28
XM_024448324.1:c.1591del	XP_024304092.1:p.Leu531TrpfsTer28
XR_001747721.2:n.1622del
XR_001747722.1:n.1635del
XR_001747723.2:n.1635del
XR_002957115.1:n.1713del
NM_006019.4:c.1498del MANE Select	NP_006010.2:p.Leu500TrpfsTer28
NM_001351059.2:c.604del	NP_001337988.1:p.Leu202TrpfsTer28
NM_006053.4:c.850del	NP_006044.1:p.Leu284TrpfsTer28