Canonical Allele Identifier: CA950358

Gene: GLMN

Linked Data

• dbSNP Id: rs781146728
• ExAC: 1:92732196 ATTAT / A
• gnomAD v2: 1-92732196-ATTAT-A
• gnomAD v3: 1-92266639-ATTAT-A
• gnomAD v4: 1-92266639-ATTAT-A
• MyVariant Identifiers: chr1:g.92732197_92732200del (hg19) ; chr1:g.92266640_92266643del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92266642_92266645del , CM000663.2:g.92266642_92266645del	GRCh38
NC_000001.10:g.92732199_92732202del , CM000663.1:g.92732199_92732202del	GRCh37
NC_000001.9:g.92504787_92504790del	NCBI36
NG_009796.1:g.37367_37370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370360.8:c.1140+57_1140+60del MANE Select	ENSP00000359385.3:n.1140+57_1140+60del
ENST00000370360.7:c.1140+57_1140+60del	ENSP00000359385.3:n.1140+57_1140+60del
ENST00000463560.1:c.509-50_509-47del
ENST00000495106.5:c.1140+57_1140+60del	ENSP00000436829.1:n.1140+57_1140+60del
ENST00000495852.6:c.364-151_364-148del	ENSP00000469157.2:n.364-151_364-148del
NM_053274.2:c.1140+57_1140+60del	NP_444504.1:n.1140+57_1140+60del
XM_005270400.1:c.1099-151_1099-148del	XP_005270457.1:n.1099-151_1099-148del
XM_005270401.2:c.1014+57_1014+60del	XP_005270458.1:n.1014+57_1014+60del
XM_006710309.1:c.639+57_639+60del	XP_006710372.1:n.639+57_639+60del
XM_011540544.1:c.1140+57_1140+60del	XP_011538846.1:n.1140+57_1140+60del
XM_011540545.1:c.1140+57_1140+60del	XP_011538847.1:n.1140+57_1140+60del
XM_011540546.1:c.1140+57_1140+60del	XP_011538848.1:n.1140+57_1140+60del
XR_946529.1:n.1256-50_1256-47del
NM_001319683.1:c.1099-151_1099-148del	NP_001306612.1:n.1099-151_1099-148del
NR_135089.1:n.1255+57_1255+60del
XM_005270401.3:c.1014+57_1014+60del	XP_005270458.1:n.1014+57_1014+60del
XM_006710309.2:c.639+57_639+60del	XP_006710372.1:n.639+57_639+60del
XM_011540546.2:c.1140+57_1140+60del	XP_011538848.1:n.1140+57_1140+60del
XM_017000137.1:c.1239+57_1239+60del	XP_016855626.1:n.1239+57_1239+60del
XM_017000138.1:c.1198-151_1198-148del	XP_016855627.1:n.1198-151_1198-148del
XM_017000139.1:c.1240-50_1240-47del	XP_016855628.1:n.1240-50_1240-47del
XM_017000140.1:c.1113+57_1113+60del	XP_016855629.1:n.1113+57_1113+60del
XM_017000141.1:c.1141-50_1141-47del	XP_016855630.1:n.1141-50_1141-47del
XM_017000142.1:c.598-151_598-148del	XP_016855631.1:n.598-151_598-148del
XM_017000143.1:c.598-151_598-148del	XP_016855632.1:n.598-151_598-148del
XM_017000144.1:c.369+57_369+60del	XP_016855633.1:n.369+57_369+60del
XR_002959248.1:n.1624-50_1624-47del
XR_002959249.1:n.1256-50_1256-47del
NM_053274.3:c.1140+57_1140+60del MANE Select	NP_444504.1:n.1140+57_1140+60del
NM_001319683.2:c.1099-151_1099-148del	NP_001306612.1:n.1099-151_1099-148del
NR_135089.2:n.1233+57_1233+60del