Canonical Allele Identifier: CA213024
Gene: TRPM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30364
ClinVar RCV Id: RCV000023312 RCV003556075
dbSNP Id: rs772011426
ExAC: 15:31354775 CACTT / C
gnomAD v2: 15-31354775-CACTT-C
gnomAD v4: 15-31062572-CACTT-C
MyVariant Identifiers: chr15:g.31354776_31354779del (hg19) chr15:g.31062573_31062576del (hg38)
PubMed: PMID:20300565
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.31062575_31062578del , CM000677.2:g.31062575_31062578del GRCh38
NC_000015.9:g.31354778_31354781del , CM000677.1:g.31354778_31354781del GRCh37
NC_000015.8:g.29142070_29142073del NCBI36
NG_016453.1:g.44146_44149del
NG_016453.2:g.103698_103701del

Transcript Alleles

HGVS Amino-acid Change
ENST00000711434.1:c.1023+3_1023+6del ENSP00000518752.1:n.1023+3_1023+6del
ENST00000397795.7:c.1023+3_1023+6del ENSP00000380897.2:n.1023+3_1023+6del
ENST00000558445.6:c.1140+3_1140+6del ENSP00000452946.2:n.1140+3_1140+6del
ENST00000559177.6:c.544+5303_544+5306del ENSP00000453477.2:n.544+5303_544+5306del
ENST00000256552.11:c.1089+3_1089+6del MANE Select ENSP00000256552.7:n.1089+3_1089+6del
ENST00000256552.10:c.1089+3_1089+6del ENSP00000256552.6:n.1089+3_1089+6del
ENST00000397795.6:c.1023+3_1023+6del ENSP00000380897.2:n.1023+3_1023+6del
ENST00000542188.5:c.1140+3_1140+6del ENSP00000437849.1:n.1140+3_1140+6del
ENST00000558070.1:n.173+3_173+6del
ENST00000558445.5:c.1023+3_1023+6del ENSP00000452946.1:n.1023+3_1023+6del
ENST00000558768.5:c.792+3_792+6del ENSP00000453119.2:n.792+3_792+6del
ENST00000559177.5:c.427+5303_427+5306del ENSP00000453477.1:n.427+5303_427+5306del
ENST00000560658.5:c.*150+3_*150+6del ENSP00000454077.1:n.*150+3_*150+6del
ENST00000560801.5:c.840+3_840+6del ENSP00000453644.2:n.840+3_840+6del
NM_001252020.1:c.1140+3_1140+6del NP_001238949.1:n.1140+3_1140+6del
NM_001252024.1:c.1089+3_1089+6del NP_001238953.1:n.1089+3_1089+6del
NM_002420.5:c.1023+3_1023+6del NP_002411.3:n.1023+3_1023+6del
NM_001252024.2:c.1089+3_1089+6del MANE Select NP_001238953.1:n.1089+3_1089+6del
NM_002420.6:c.1023+3_1023+6del NP_002411.3:n.1023+3_1023+6del
NM_001252020.2:c.1140+3_1140+6del NP_001238949.1:n.1140+3_1140+6del
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