Canonical Allele Identifier: CA2573131057
Gene: TPM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1394827
ClinVar RCV Id: RCV001884898
dbSNP Id: rs2148295371

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154191930_154191934del , CM000663.2:g.154191930_154191934del GRCh38
NC_000001.10:g.154164406_154164410del , CM000663.1:g.154164406_154164410del GRCh37
NC_000001.9:g.152431030_152431034del NCBI36
NG_008621.1:g.5202_5206del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368530.7:c.87_91del ENSP00000357516.3:p.Gln30AlafsTer7
ENST00000651641.1:c.87_91del MANE Select ENSP00000498577.1:p.Gln30AlafsTer7
ENST00000651644.1:c.87_91del ENSP00000498648.1:p.Gln30AlafsTer7
ENST00000271850.11:c.87_91del ENSP00000271850.7:p.Gln30AlafsTer7
ENST00000368530.6:c.87_91del ENSP00000357516.2:p.Gln30AlafsTer7
ENST00000466010.1:n.17_21del
ENST00000515609.1:c.87_91del ENSP00000426306.1:p.Gln30AlafsTer7
NM_152263.3:c.87_91del NP_689476.2:p.Gln30AlafsTer7
NR_103460.1:n.136_140del
XM_006711515.1:c.87_91del XP_006711578.1:p.Gln30AlafsTer7
XM_006711517.1:c.87_91del XP_006711580.1:p.Gln30AlafsTer7
XM_006711518.1:c.87_91del XP_006711581.1:p.Gln30AlafsTer7
XM_006711519.1:c.87_91del XP_006711582.1:p.Gln30AlafsTer7
XM_006711520.1:c.87_91del XP_006711583.1:p.Gln30AlafsTer7
XM_006711521.1:c.87_91del XP_006711584.1:p.Gln30AlafsTer7
XM_011509950.1:c.87_91del XP_011508252.1:p.Gln30AlafsTer7
XM_011509951.1:c.87_91del XP_011508253.1:p.Gln30AlafsTer7
NM_001364679.1:c.87_91del NP_001351608.1:p.Gln30AlafsTer7
NM_001364680.1:c.87_91del NP_001351609.1:p.Gln30AlafsTer7
NM_001364681.1:c.87_91del NP_001351610.1:p.Gln30AlafsTer7
NM_001364682.1:c.87_91del NP_001351611.1:p.Gln30AlafsTer7
NM_152263.4:c.87_91del MANE Select NP_689476.2:p.Gln30AlafsTer7
NM_001364679.2:c.87_91del NP_001351608.1:p.Gln30AlafsTer7
NM_001364680.2:c.87_91del NP_001351609.1:p.Gln30AlafsTer7
NM_001364681.2:c.87_91del NP_001351610.1:p.Gln30AlafsTer7
NR_103460.2:n.169_173del