Canonical Allele Identifier: CA617553148

Gene: TRPM1

Linked Data

• dbSNP Id: rs1227597645
• gnomAD v2: 15-31362413-ACTGG-A
• gnomAD v3: 15-31070210-ACTGG-A
• gnomAD v4: 15-31070210-ACTGG-A
• MyVariant Identifiers: chr15:g.31362414_31362417del (hg19) ; chr15:g.31070211_31070214del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.31070212_31070215del , CM000677.2:g.31070212_31070215del	GRCh38
NC_000015.9:g.31362415_31362418del , CM000677.1:g.31362415_31362418del	GRCh37
NC_000015.8:g.29149707_29149710del	NCBI36
NG_016453.1:g.36508_36511del
NG_016453.2:g.96060_96063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711434.1:c.30_33del	ENSP00000518752.1:p.Gln11SerfsTer?
ENST00000397795.7:c.30_33del	ENSP00000380897.2:p.Gln11SerfsTer?
ENST00000558445.6:c.147_150del	ENSP00000452946.2:p.Gln50SerfsTer?
ENST00000559177.6:c.147_150del	ENSP00000453477.2:p.Gln50SerfsTer?
ENST00000559179.2:c.30_33del	ENSP00000453851.1:p.Gln11SerfsTer?
ENST00000256552.11:c.96_99del MANE Select	ENSP00000256552.7:p.Gln33SerfsTer?
ENST00000256552.10:c.96_99del	ENSP00000256552.6:p.Gln33SerfsTer?
ENST00000397795.6:c.30_33del	ENSP00000380897.2:p.Gln11SerfsTer?
ENST00000542188.5:c.147_150del	ENSP00000437849.1:p.Gln50SerfsTer?
ENST00000558445.5:c.30_33del	ENSP00000452946.1:p.Gln11SerfsTer?
ENST00000559177.5:c.30_33del	ENSP00000453477.1:p.Gln11SerfsTer?
ENST00000559179.1:c.30_33del	ENSP00000453851.1:p.Gln11SerfsTer?
ENST00000560658.5:c.30_33del	ENSP00000454077.1:p.Gln11SerfsTer?
NM_001252020.1:c.147_150del	NP_001238949.1:p.Gln50SerfsTer?
NM_001252024.1:c.96_99del	NP_001238953.1:p.Gln33SerfsTer?
NM_001252030.1:c.30_33del	NP_001238959.1:p.Gln11SerfsTer?
NM_002420.5:c.30_33del	NP_002411.3:p.Gln11SerfsTer?
NM_001252024.2:c.96_99del MANE Select	NP_001238953.1:p.Gln33SerfsTer?
NM_001252030.2:c.30_33del	NP_001238959.1:p.Gln11SerfsTer?
NM_002420.6:c.30_33del	NP_002411.3:p.Gln11SerfsTer?
NM_001252020.2:c.147_150del	NP_001238949.1:p.Gln50SerfsTer?