Canonical Allele Identifier: CA950336

Gene: GLMN

Linked Data

• ClinVar Variation Id: 1691366
• ClinVar RCV Id: RCV002254464
• dbSNP Id: rs750074519
• ExAC: 1:92732038 ACT / A
• gnomAD v2: 1-92732038-ACT-A
• gnomAD v3: 1-92266481-ACT-A
• gnomAD v4: 1-92266481-ACT-A
• MyVariant Identifiers: chr1:g.92732039_92732040del (hg19) ; chr1:g.92266482_92266483del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266484_92266485del , CM000663.2:g.92266484_92266485del	GRCh38
NC_000001.10:g.92732041_92732042del , CM000663.1:g.92732041_92732042del	GRCh37
NC_000001.9:g.92504629_92504630del	NCBI36
NG_009796.1:g.37527_37528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1150_1151del MANE Select	ENSP00000359385.3:p.Ser384PhefsTer9
ENST00000370360.7:c.1150_1151del	ENSP00000359385.3:p.Ser384PhefsTer9
ENST00000463560.1:c.562+57_562+58del
ENST00000495106.5:c.1150_1151del	ENSP00000436829.1:p.Ser384PhefsTer9
ENST00000495852.6:c.373_374del	ENSP00000469157.2:p.Ser125PhefsTer9
NM_053274.2:c.1150_1151del	NP_444504.1:p.Ser384PhefsTer9
XM_005270400.1:c.1108_1109del	XP_005270457.1:p.Ser370PhefsTer9
XM_005270401.2:c.1024_1025del	XP_005270458.1:p.Ser342PhefsTer9
XM_006710309.1:c.649_650del	XP_006710372.1:p.Ser217PhefsTer9
XM_011540544.1:c.1150_1151del	XP_011538846.1:p.Ser384PhefsTer9
XM_011540545.1:c.1150_1151del	XP_011538847.1:p.Ser384PhefsTer9
XM_011540546.1:c.1150_1151del	XP_011538848.1:p.Ser384PhefsTer9
XR_946529.1:n.1309+57_1309+58del
NM_001319683.1:c.1108_1109del	NP_001306612.1:p.Ser370PhefsTer9
NR_135089.1:n.1265_1266del
XM_005270401.3:c.1024_1025del	XP_005270458.1:p.Ser342PhefsTer9
XM_006710309.2:c.649_650del	XP_006710372.1:p.Ser217PhefsTer9
XM_011540546.2:c.1150_1151del	XP_011538848.1:p.Ser384PhefsTer9
XM_017000137.1:c.1249_1250del	XP_016855626.1:p.Ser417PhefsTer9
XM_017000138.1:c.1207_1208del	XP_016855627.1:p.Ser403PhefsTer9
XM_017000139.1:c.1293+57_1293+58del	XP_016855628.1:n.1293+57_1293+58del
XM_017000140.1:c.1123_1124del	XP_016855629.1:p.Ser375PhefsTer9
XM_017000141.1:c.1194+57_1194+58del	XP_016855630.1:n.1194+57_1194+58del
XM_017000142.1:c.607_608del	XP_016855631.1:p.Ser203PhefsTer9
XM_017000143.1:c.607_608del	XP_016855632.1:p.Ser203PhefsTer9
XM_017000144.1:c.379_380del	XP_016855633.1:p.Ser127PhefsTer9
XR_002959248.1:n.1677+57_1677+58del
XR_002959249.1:n.1309+57_1309+58del
NM_053274.3:c.1150_1151del MANE Select	NP_444504.1:p.Ser384PhefsTer9
NM_001319683.2:c.1108_1109del	NP_001306612.1:p.Ser370PhefsTer9
NR_135089.2:n.1243_1244del