Canonical Allele Identifier: CA2695200633

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2674027
• ClinVar RCV Id: RCV003452224

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806499_47806500del , CM000664.2:g.47806499_47806500del	GRCh38
NC_000002.11:g.48033638_48033639del , CM000664.1:g.48033638_48033639del	GRCh37
NC_000002.10:g.47887142_47887143del	NCBI36
NG_007111.1:g.28353_28354del , LRG_219:g.28353_28354del
NG_008397.1:g.104176_104177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3552_3553del (MSH6)	ENSP00000406248.2:p.Thr1185ValfsTer4
ENST00000420813.6:c.3552_3553del (MSH6)	ENSP00000390382.2:p.Thr1185ValfsTer4
ENST00000455383.6:c.3552_3553del (MSH6)	ENSP00000397484.2:p.Thr1185ValfsTer4
ENST00000700004.2:c.3465_3466del (MSH6)	ENSP00000514752.2:p.Thr1156ValfsTer4
ENST00000699999.1:n.4523_4524del (MSH6)
ENST00000700000.1:c.2283_2284del (MSH6)	ENSP00000514749.1:p.Thr762ValfsTer4
ENST00000700002.1:c.3855_3856del (MSH6)	ENSP00000514750.1:p.Thr1286ValfsTer4
ENST00000700003.1:c.1304_1305del (MSH6)	ENSP00000514751.1:n.1304_1305del
ENST00000700004.1:c.2622_2623del (MSH6)	ENSP00000514752.1:p.Thr875ValfsTer4
ENST00000700005.1:n.2700_2701del (MSH6)
ENST00000700006.1:n.5007_5008del (MSH6)
ENST00000700007.1:n.2444_2445del (MSH6)
ENST00000700008.1:n.2111_2112del (MSH6)
ENST00000700009.1:n.2513_2514del (MSH6)
ENST00000700010.1:n.1258_1259del (MSH6)
ENST00000700011.1:n.3143_3144del (MSH6)
ENST00000682451.1:n.4248_4249del (FBXO11)
ENST00000684712.1:n.4510_4511del (FBXO11)
ENST00000234420.11:c.3849_3850del (MSH6) MANE Select	ENSP00000234420.5:p.Thr1284ValfsTer4
ENST00000540021.6:c.3459_3460del (MSH6)	ENSP00000446475.1:p.Thr1154ValfsTer4
ENST00000652107.1:c.3552_3553del (MSH6)	ENSP00000498629.1:p.Thr1185ValfsTer4
ENST00000673637.1:c.3552_3553del (MSH6)	ENSP00000501310.1:p.Thr1185ValfsTer4
ENST00000234420.9:c.3849_3850del (MSH6)	ENSP00000234420.4:p.Thr1284ValfsTer4
ENST00000405808.5:c.169+1695_169+1696del (FBXO11)	ENSP00000385127.1:n.169+1695_169+1696del
ENST00000434234.5:c.*124+1494_*124+1495del (FBXO11)	ENSP00000402692.1:n.*124+1494_*124+1495del
ENST00000445503.5:c.*3196_*3197del (MSH6)	ENSP00000405294.1:n.*3196_*3197del
ENST00000538136.1:c.2943_2944del (MSH6)	ENSP00000438580.1:p.Thr982ValfsTer4
ENST00000540021.5:c.3459_3460del (MSH6)	ENSP00000446475.1:p.Thr1154ValfsTer4
ENST00000614496.4:c.2943_2944del (MSH6)	ENSP00000477844.1:p.Thr982ValfsTer4
ENST00000622629.4:c.750_751del (MSH6)	ENSP00000482078.1:p.Thr251ValfsTer4
NM_000179.2:c.3849_3850del , LRG_219t1:c.3849_3850del (MSH6)	NP_000170.1:p.Thr1284ValfsTer4
NM_001281492.1:c.3459_3460del (MSH6)	NP_001268421.1:p.Thr1154ValfsTer4
NM_001281493.1:c.2943_2944del (MSH6)	NP_001268422.1:p.Thr982ValfsTer4
NM_001281494.1:c.2943_2944del (MSH6)	NP_001268423.1:p.Thr982ValfsTer4
XM_005264271.1:c.3552_3553del (MSH6)	XP_005264328.1:p.Thr1185ValfsTer4
XM_011532798.1:c.3666_3667del (MSH6)	XP_011531100.1:p.Thr1223ValfsTer4
XM_011532799.1:c.3552_3553del (MSH6)	XP_011531101.1:p.Thr1185ValfsTer4
XM_011532800.1:c.3552_3553del (MSH6)	XP_011531102.1:p.Thr1185ValfsTer4
XM_024452819.1:c.3942_3943del (MSH6)	XP_024308587.1:p.Thr1315ValfsTer4
XM_024452820.1:c.3759_3760del (MSH6)	XP_024308588.1:p.Thr1254ValfsTer4
XM_024452821.1:c.3645_3646del (MSH6)	XP_024308589.1:p.Thr1216ValfsTer4
XM_024452822.1:c.3036_3037del (MSH6)	XP_024308590.1:p.Thr1013ValfsTer4
NM_000179.3:c.3849_3850del (MSH6) MANE Select	NP_000170.1:p.Thr1284ValfsTer4
NM_001281492.2:c.3459_3460del (MSH6)	NP_001268421.1:p.Thr1154ValfsTer4
NM_001281493.2:c.2943_2944del (MSH6)	NP_001268422.1:p.Thr982ValfsTer4
NM_001281494.2:c.2943_2944del (MSH6)	NP_001268423.1:p.Thr982ValfsTer4