Canonical Allele Identifier: CA2580067312

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2431291
• ClinVar RCV Id: RCV003140351

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806300_47806301del , CM000664.2:g.47806300_47806301del	GRCh38
NC_000002.11:g.48033439_48033440del , CM000664.1:g.48033439_48033440del	GRCh37
NC_000002.10:g.47886943_47886944del	NCBI36
NG_007111.1:g.28154_28155del , LRG_219:g.28154_28155del
NG_008397.1:g.104376_104377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3446_3447del (MSH6)	ENSP00000406248.2:p.His1149LeufsTer26
ENST00000420813.6:c.3446_3447del (MSH6)	ENSP00000390382.2:p.His1149LeufsTer26
ENST00000455383.6:c.3446_3447del (MSH6)	ENSP00000397484.2:p.His1149LeufsTer26
ENST00000700004.2:c.3359_3360del (MSH6)	ENSP00000514752.2:p.His1120LeufsTer26
ENST00000699999.1:n.4417_4418del (MSH6)
ENST00000700000.1:c.2177_2178del (MSH6)	ENSP00000514749.1:p.His726LeufsTer26
ENST00000700002.1:c.3749_3750del (MSH6)	ENSP00000514750.1:p.His1250LeufsTer26
ENST00000700003.1:c.1198_1199del (MSH6)	ENSP00000514751.1:n.1198_1199del
ENST00000700004.1:c.2516_2517del (MSH6)	ENSP00000514752.1:p.His839LeufsTer26
ENST00000700005.1:n.2594_2595del (MSH6)
ENST00000700006.1:n.4901_4902del (MSH6)
ENST00000700007.1:n.2338_2339del (MSH6)
ENST00000700008.1:n.1912_1913del (MSH6)
ENST00000700009.1:n.2407_2408del (MSH6)
ENST00000700010.1:n.1152_1153del (MSH6)
ENST00000700011.1:n.3037_3038del (MSH6)
ENST00000682451.1:n.4448_4449del (FBXO11)
ENST00000684712.1:n.4710_4711del (FBXO11)
ENST00000234420.11:c.3743_3744del (MSH6) MANE Select	ENSP00000234420.5:p.His1248LeufsTer26
ENST00000540021.6:c.3353_3354del (MSH6)	ENSP00000446475.1:p.His1118LeufsTer26
ENST00000652107.1:c.3446_3447del (MSH6)	ENSP00000498629.1:p.His1149LeufsTer26
ENST00000673637.1:c.3446_3447del (MSH6)	ENSP00000501310.1:p.His1149LeufsTer26
ENST00000234420.9:c.3743_3744del (MSH6)	ENSP00000234420.4:p.His1248LeufsTer26
ENST00000405808.5:c.169+1895_169+1896del (FBXO11)	ENSP00000385127.1:n.169+1895_169+1896del
ENST00000434234.5:c.*124+1694_*124+1695del (FBXO11)	ENSP00000402692.1:n.*124+1694_*124+1695del
ENST00000445503.5:c.*3090_*3091del (MSH6)	ENSP00000405294.1:n.*3090_*3091del
ENST00000538136.1:c.2837_2838del (MSH6)	ENSP00000438580.1:p.His946LeufsTer26
ENST00000540021.5:c.3353_3354del (MSH6)	ENSP00000446475.1:p.His1118LeufsTer26
ENST00000614496.4:c.2837_2838del (MSH6)	ENSP00000477844.1:p.His946LeufsTer26
ENST00000622629.4:c.647_648del (MSH6)	ENSP00000482078.1:p.His216LeufsTer4
NM_000179.2:c.3743_3744del , LRG_219t1:c.3743_3744del (MSH6)	NP_000170.1:p.His1248LeufsTer26
NM_001281492.1:c.3353_3354del (MSH6)	NP_001268421.1:p.His1118LeufsTer26
NM_001281493.1:c.2837_2838del (MSH6)	NP_001268422.1:p.His946LeufsTer26
NM_001281494.1:c.2837_2838del (MSH6)	NP_001268423.1:p.His946LeufsTer26
XM_005264271.1:c.3446_3447del (MSH6)	XP_005264328.1:p.His1149LeufsTer26
XM_011532798.1:c.3560_3561del (MSH6)	XP_011531100.1:p.His1187LeufsTer26
XM_011532799.1:c.3446_3447del (MSH6)	XP_011531101.1:p.His1149LeufsTer26
XM_011532800.1:c.3446_3447del (MSH6)	XP_011531102.1:p.His1149LeufsTer26
XM_024452819.1:c.3743_3744del (MSH6)	XP_024308587.1:p.His1248LeufsTer?
XM_024452820.1:c.3560_3561del (MSH6)	XP_024308588.1:p.His1187LeufsTer?
XM_024452821.1:c.3446_3447del (MSH6)	XP_024308589.1:p.His1149LeufsTer?
XM_024452822.1:c.2837_2838del (MSH6)	XP_024308590.1:p.His946LeufsTer?
NM_000179.3:c.3743_3744del (MSH6) MANE Select	NP_000170.1:p.His1248LeufsTer26
NM_001281492.2:c.3353_3354del (MSH6)	NP_001268421.1:p.His1118LeufsTer26
NM_001281493.2:c.2837_2838del (MSH6)	NP_001268422.1:p.His946LeufsTer26
NM_001281494.2:c.2837_2838del (MSH6)	NP_001268423.1:p.His946LeufsTer26