Canonical Allele Identifier: CA2663735560
Gene: TRPM8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233945874del , CM000664.2:g.233945874del GRCh38
NC_000002.11:g.234854518del , CM000664.1:g.234854518del GRCh37
NC_000002.10:g.234519257del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000324695.9:c.718del MANE Select ENSP00000323926.4:p.Tyr240ThrfsTer?
ENST00000324695.8:c.718del ENSP00000323926.4:p.Tyr240ThrfsTer?
ENST00000433712.6:c.-6del ENSP00000404423.3:n.-6del
ENST00000444298.5:c.718del ENSP00000396745.1:p.Tyr240ThrfsTer?
NM_024080.4:c.718del NP_076985.4:p.Tyr240ThrfsTer?
XM_011511810.1:c.718del XP_011510112.1:p.Tyr240ThrfsTer?
XM_011511810.2:c.718del XP_011510112.1:p.Tyr240ThrfsTer?
XM_017004891.1:c.487del XP_016860380.1:p.Tyr163ThrfsTer?
XM_024453132.1:c.487del XP_024308900.1:p.Tyr163ThrfsTer?
NM_024080.5:c.718del MANE Select NP_076985.4:p.Tyr240ThrfsTer?
NM_001397606.1:c.718del NP_001384535.1:p.Tyr240ThrfsTer?
NM_001397607.1:c.568del NP_001384536.1:p.Tyr190ThrfsTer?
NM_001397608.1:c.718del NP_001384537.1:p.Tyr240ThrfsTer?
NM_001397609.1:c.487del NP_001384538.1:p.Tyr163ThrfsTer?
NM_001397610.1:c.487del NP_001384539.1:p.Tyr163ThrfsTer?
NM_001397611.1:c.487del NP_001384540.1:p.Tyr163ThrfsTer?
NM_001397612.1:c.487del NP_001384541.1:p.Tyr163ThrfsTer?
NM_001397613.1:c.487del NP_001384542.1:p.Tyr163ThrfsTer?
NM_001397615.1:c.-311-1214del NP_001384544.1:n.-311-1214del
NM_001397635.1:c.29-1214del NP_001384564.1:n.29-1214del