Canonical Allele Identifier: CA072818

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 641995
• ClinVar RCV Id: RCV000795372 ; RCV002501047 ; RCV002352328
• dbSNP Id: rs772655560
• ExAC: 2:48033943 T / TCAA
• gnomAD v2: 2-48033943-T-TCAA
• gnomAD v3: 2-47806804-T-TCAA
• gnomAD v4: 2-47806804-T-TCAA
• MyVariant Identifiers: chr2:g.48033943_48033944insCAA (hg19) ; chr2:g.47806804_47806805insCAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806806_47806808dup , CM000664.2:g.47806806_47806808dup	GRCh38
NC_000002.11:g.48033945_48033947dup , CM000664.1:g.48033945_48033947dup	GRCh37
NC_000002.10:g.47887449_47887451dup	NCBI36
NG_007111.1:g.28660_28662dup , LRG_219:g.28660_28662dup
NG_008397.1:g.103869_103871dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3732_3734dup (MSH6)	ENSP00000406248.2:p.Thr1245_Val1246insThr
ENST00000420813.6:c.3732_3734dup (MSH6)	ENSP00000390382.2:p.Thr1245_Val1246insThr
ENST00000455383.6:c.3732_3734dup (MSH6)	ENSP00000397484.2:p.Thr1245_Val1246insThr
ENST00000700004.2:c.3645_3647dup (MSH6)	ENSP00000514752.2:p.Thr1216_Val1217insThr
ENST00000699999.1:n.4703_4705dup (MSH6)
ENST00000700000.1:c.2463_2465dup (MSH6)	ENSP00000514749.1:p.Thr822_Val823insThr
ENST00000700002.1:c.4035_4037dup (MSH6)	ENSP00000514750.1:p.Thr1346_Val1347insThr
ENST00000700003.1:c.1484_1486dup (MSH6)	ENSP00000514751.1:n.1484_1486dup
ENST00000700004.1:c.2802_2804dup (MSH6)	ENSP00000514752.1:p.Thr935_Val936insThr
ENST00000700005.1:n.3007_3009dup (MSH6)
ENST00000700007.1:n.2624_2626dup (MSH6)
ENST00000700008.1:n.2291_2293dup (MSH6)
ENST00000700009.1:n.2693_2695dup (MSH6)
ENST00000700010.1:n.1438_1440dup (MSH6)
ENST00000700011.1:n.3323_3325dup (MSH6)
ENST00000682451.1:n.3941_3943dup (FBXO11)
ENST00000684712.1:n.4203_4205dup (FBXO11)
ENST00000234420.11:c.4029_4031dup (MSH6) MANE Select	ENSP00000234420.5:p.Thr1344_Val1345insThr
ENST00000540021.6:c.3639_3641dup (MSH6)	ENSP00000446475.1:p.Thr1214_Val1215insThr
ENST00000652107.1:c.3732_3734dup (MSH6)	ENSP00000498629.1:p.Thr1245_Val1246insThr
ENST00000673637.1:c.3732_3734dup (MSH6)	ENSP00000501310.1:p.Thr1245_Val1246insThr
ENST00000234420.9:c.4029_4031dup (MSH6)	ENSP00000234420.4:p.Thr1344_Val1345insThr
ENST00000405808.5:c.169+1388_169+1390dup (FBXO11)	ENSP00000385127.1:n.169+1388_169+1390dup
ENST00000434234.5:c.*124+1187_*124+1189dup (FBXO11)	ENSP00000402692.1:n.*124+1187_*124+1189dup
ENST00000445503.5:c.*3376_*3378dup (MSH6)	ENSP00000405294.1:n.*3376_*3378dup
ENST00000465204.5:n.3103_3105dup (FBXO11)
ENST00000538136.1:c.3123_3125dup (MSH6)	ENSP00000438580.1:p.Thr1042_Val1043insThr
ENST00000540021.5:c.3639_3641dup (MSH6)	ENSP00000446475.1:p.Thr1214_Val1215insThr
ENST00000614496.4:c.3123_3125dup (MSH6)	ENSP00000477844.1:p.Thr1042_Val1043insThr
ENST00000622629.4:c.930_932dup (MSH6)	ENSP00000482078.1:p.Thr311_Val312insThr
NM_000179.2:c.4029_4031dup , LRG_219t1:c.4029_4031dup (MSH6)	NP_000170.1:p.Thr1344_Val1345insThr
NM_001281492.1:c.3639_3641dup (MSH6)	NP_001268421.1:p.Thr1214_Val1215insThr
NM_001281493.1:c.3123_3125dup (MSH6)	NP_001268422.1:p.Thr1042_Val1043insThr
NM_001281494.1:c.3123_3125dup (MSH6)	NP_001268423.1:p.Thr1042_Val1043insThr
XM_005264271.1:c.3732_3734dup (MSH6)	XP_005264328.1:p.Thr1245_Val1246insThr
XM_011532798.1:c.3846_3848dup (MSH6)	XP_011531100.1:p.Thr1283_Val1284insThr
XM_011532799.1:c.3732_3734dup (MSH6)	XP_011531101.1:p.Thr1245_Val1246insThr
XM_011532800.1:c.3732_3734dup (MSH6)	XP_011531102.1:p.Thr1245_Val1246insThr
XM_024452819.1:c.4122_4124dup (MSH6)	XP_024308587.1:p.Thr1375_Val1376insThr
XM_024452820.1:c.3939_3941dup (MSH6)	XP_024308588.1:p.Thr1314_Val1315insThr
XM_024452821.1:c.3825_3827dup (MSH6)	XP_024308589.1:p.Thr1276_Val1277insThr
XM_024452822.1:c.3216_3218dup (MSH6)	XP_024308590.1:p.Thr1073_Val1074insThr
NM_000179.3:c.4029_4031dup (MSH6) MANE Select	NP_000170.1:p.Thr1344_Val1345insThr
NM_001281492.2:c.3639_3641dup (MSH6)	NP_001268421.1:p.Thr1214_Val1215insThr
NM_001281493.2:c.3123_3125dup (MSH6)	NP_001268422.1:p.Thr1042_Val1043insThr
NM_001281494.2:c.3123_3125dup (MSH6)	NP_001268423.1:p.Thr1042_Val1043insThr