Canonical Allele Identifier: CA2505780669
Gene: TRPM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31070196_31070197del , CM000677.2:g.31070196_31070197del GRCh38
NC_000015.9:g.31362399_31362400del , CM000677.1:g.31362399_31362400del GRCh37
NC_000015.8:g.29149691_29149692del NCBI36
NG_016453.1:g.36527_36528del
NG_016453.2:g.96079_96080del

Transcript Alleles

HGVS Amino-acid Change
ENST00000711434.1:c.49_50del ENSP00000518752.1:p.Ile17ProfsTer12
ENST00000397795.7:c.49_50del ENSP00000380897.2:p.Ile17ProfsTer12
ENST00000558445.6:c.166_167del ENSP00000452946.2:p.Ile56ProfsTer12
ENST00000559177.6:c.166_167del ENSP00000453477.2:p.Ile56ProfsTer12
ENST00000559179.2:c.49_50del ENSP00000453851.1:p.Ile17ProfsTer12
ENST00000256552.11:c.115_116del MANE Select ENSP00000256552.7:p.Ile39ProfsTer12
ENST00000256552.10:c.115_116del ENSP00000256552.6:p.Ile39ProfsTer12
ENST00000397795.6:c.49_50del ENSP00000380897.2:p.Ile17ProfsTer12
ENST00000542188.5:c.166_167del ENSP00000437849.1:p.Ile56ProfsTer12
ENST00000558445.5:c.49_50del ENSP00000452946.1:p.Ile17ProfsTer12
ENST00000559177.5:c.49_50del ENSP00000453477.1:p.Ile17ProfsTer12
ENST00000559179.1:c.49_50del ENSP00000453851.1:p.Ile17ProfsTer12
ENST00000560658.5:c.49_50del ENSP00000454077.1:p.Ile17ProfsTer12
NM_001252020.1:c.166_167del NP_001238949.1:p.Ile56ProfsTer12
NM_001252024.1:c.115_116del NP_001238953.1:p.Ile39ProfsTer12
NM_001252030.1:c.49_50del NP_001238959.1:p.Ile17ProfsTer12
NM_002420.5:c.49_50del NP_002411.3:p.Ile17ProfsTer12
NM_001252024.2:c.115_116del MANE Select NP_001238953.1:p.Ile39ProfsTer12
NM_001252030.2:c.49_50del NP_001238959.1:p.Ile17ProfsTer12
NM_002420.6:c.49_50del NP_002411.3:p.Ile17ProfsTer12
NM_001252020.2:c.166_167del NP_001238949.1:p.Ile56ProfsTer12