Canonical Allele Identifier: CA2496053989

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1040072
• ClinVar RCV Id: RCV001343656
• dbSNP Id: rs1670040273

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806211_47806228del , CM000664.2:g.47806211_47806228del	GRCh38
NC_000002.11:g.48033350_48033367del , CM000664.1:g.48033350_48033367del	GRCh37
NC_000002.10:g.47886854_47886871del	NCBI36
NG_007111.1:g.28065_28082del , LRG_219:g.28065_28082del
NG_008397.1:g.104450_104467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3357_3374del (MSH6)	ENSP00000406248.2:p.Thr1120_Gly1125del
ENST00000420813.6:c.3357_3374del (MSH6)	ENSP00000390382.2:p.Thr1120_Gly1125del
ENST00000455383.6:c.3357_3374del (MSH6)	ENSP00000397484.2:p.Thr1120_Gly1125del
ENST00000700004.2:c.3270_3287del (MSH6)	ENSP00000514752.2:p.Thr1091_Gly1096del
ENST00000699999.1:n.4328_4345del (MSH6)
ENST00000700000.1:c.2088_2105del (MSH6)	ENSP00000514749.1:p.Thr697_Gly702del
ENST00000700002.1:c.3660_3677del (MSH6)	ENSP00000514750.1:p.Thr1221_Gly1226del
ENST00000700003.1:c.1109_1126del (MSH6)	ENSP00000514751.1:n.1109_1126del
ENST00000700004.1:c.2427_2444del (MSH6)	ENSP00000514752.1:p.Thr810_Gly815del
ENST00000700005.1:n.2505_2522del (MSH6)
ENST00000700006.1:n.4812_4829del (MSH6)
ENST00000700007.1:n.2249_2266del (MSH6)
ENST00000700008.1:n.1823_1840del (MSH6)
ENST00000700009.1:n.2318_2335del (MSH6)
ENST00000700010.1:n.1063_1080del (MSH6)
ENST00000700011.1:n.2948_2965del (MSH6)
ENST00000682451.1:n.4522_4539del (FBXO11)
ENST00000684712.1:n.4784_4801del (FBXO11)
ENST00000234420.11:c.3654_3671del (MSH6) MANE Select	ENSP00000234420.5:p.Thr1219_Gly1224del
ENST00000540021.6:c.3264_3281del (MSH6)	ENSP00000446475.1:p.Thr1089_Gly1094del
ENST00000652107.1:c.3357_3374del (MSH6)	ENSP00000498629.1:p.Thr1120_Gly1125del
ENST00000673637.1:c.3357_3374del (MSH6)	ENSP00000501310.1:p.Thr1120_Gly1125del
ENST00000234420.9:c.3654_3671del (MSH6)	ENSP00000234420.4:p.Thr1219_Gly1224del
ENST00000405808.5:c.169+1969_169+1986del (FBXO11)	ENSP00000385127.1:n.169+1969_169+1986del
ENST00000434234.5:c.*124+1768_*124+1785del (FBXO11)	ENSP00000402692.1:n.*124+1768_*124+1785del
ENST00000445503.5:c.*3001_*3018del (MSH6)	ENSP00000405294.1:n.*3001_*3018del
ENST00000538136.1:c.2748_2765del (MSH6)	ENSP00000438580.1:p.Thr917_Gly922del
ENST00000540021.5:c.3264_3281del (MSH6)	ENSP00000446475.1:p.Thr1089_Gly1094del
ENST00000614496.4:c.2748_2765del (MSH6)	ENSP00000477844.1:p.Thr917_Gly922del
ENST00000622629.4:c.558_575del (MSH6)	ENSP00000482078.1:p.Thr187_Gly192del
NM_000179.2:c.3654_3671del , LRG_219t1:c.3654_3671del (MSH6)	NP_000170.1:p.Thr1219_Gly1224del
NM_001281492.1:c.3264_3281del (MSH6)	NP_001268421.1:p.Thr1089_Gly1094del
NM_001281493.1:c.2748_2765del (MSH6)	NP_001268422.1:p.Thr917_Gly922del
NM_001281494.1:c.2748_2765del (MSH6)	NP_001268423.1:p.Thr917_Gly922del
XM_005264271.1:c.3357_3374del (MSH6)	XP_005264328.1:p.Thr1120_Gly1125del
XM_011532798.1:c.3471_3488del (MSH6)	XP_011531100.1:p.Thr1158_Gly1163del
XM_011532799.1:c.3357_3374del (MSH6)	XP_011531101.1:p.Thr1120_Gly1125del
XM_011532800.1:c.3357_3374del (MSH6)	XP_011531102.1:p.Thr1120_Gly1125del
XM_024452819.1:c.3654_3671del (MSH6)	XP_024308587.1:p.Thr1219_Gly1224del
XM_024452820.1:c.3471_3488del (MSH6)	XP_024308588.1:p.Thr1158_Gly1163del
XM_024452821.1:c.3357_3374del (MSH6)	XP_024308589.1:p.Thr1120_Gly1125del
XM_024452822.1:c.2748_2765del (MSH6)	XP_024308590.1:p.Thr917_Gly922del
NM_000179.3:c.3654_3671del (MSH6) MANE Select	NP_000170.1:p.Thr1219_Gly1224del
NM_001281492.2:c.3264_3281del (MSH6)	NP_001268421.1:p.Thr1089_Gly1094del
NM_001281493.2:c.2748_2765del (MSH6)	NP_001268422.1:p.Thr917_Gly922del
NM_001281494.2:c.2748_2765del (MSH6)	NP_001268423.1:p.Thr917_Gly922del