Canonical Allele Identifier: CA2580611309

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1069523
• ClinVar RCV Id: RCV001381415
• dbSNP Id: rs2104540758

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806266_47806269dup , CM000664.2:g.47806266_47806269dup	GRCh38
NC_000002.11:g.48033405_48033408dup , CM000664.1:g.48033405_48033408dup	GRCh37
NC_000002.10:g.47886909_47886912dup	NCBI36
NG_007111.1:g.28120_28123dup , LRG_219:g.28120_28123dup
NG_008397.1:g.104407_104410dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3412_3415dup (MSH6)	ENSP00000406248.2:p.Thr1139ArgfsTer?
ENST00000420813.6:c.3412_3415dup (MSH6)	ENSP00000390382.2:p.Thr1139ArgfsTer?
ENST00000455383.6:c.3412_3415dup (MSH6)	ENSP00000397484.2:p.Thr1139ArgfsTer?
ENST00000700004.2:c.3325_3328dup (MSH6)	ENSP00000514752.2:p.Thr1110ArgfsTer?
ENST00000699999.1:n.4383_4386dup (MSH6)
ENST00000700000.1:c.2143_2146dup (MSH6)	ENSP00000514749.1:p.Thr716ArgfsTer?
ENST00000700002.1:c.3715_3718dup (MSH6)	ENSP00000514750.1:p.Thr1240ArgfsTer?
ENST00000700003.1:c.1164_1167dup (MSH6)	ENSP00000514751.1:n.1164_1167dup
ENST00000700004.1:c.2482_2485dup (MSH6)	ENSP00000514752.1:p.Thr829ArgfsTer?
ENST00000700005.1:n.2560_2563dup (MSH6)
ENST00000700006.1:n.4867_4870dup (MSH6)
ENST00000700007.1:n.2304_2307dup (MSH6)
ENST00000700008.1:n.1878_1881dup (MSH6)
ENST00000700009.1:n.2373_2376dup (MSH6)
ENST00000700010.1:n.1118_1121dup (MSH6)
ENST00000700011.1:n.3003_3006dup (MSH6)
ENST00000682451.1:n.4479_4482dup (FBXO11)
ENST00000684712.1:n.4741_4744dup (FBXO11)
ENST00000234420.11:c.3709_3712dup (MSH6) MANE Select	ENSP00000234420.5:p.Thr1238ArgfsTer?
ENST00000540021.6:c.3319_3322dup (MSH6)	ENSP00000446475.1:p.Thr1108ArgfsTer?
ENST00000652107.1:c.3412_3415dup (MSH6)	ENSP00000498629.1:p.Thr1139ArgfsTer?
ENST00000673637.1:c.3412_3415dup (MSH6)	ENSP00000501310.1:p.Thr1139ArgfsTer?
ENST00000234420.9:c.3709_3712dup (MSH6)	ENSP00000234420.4:p.Thr1238ArgfsTer?
ENST00000405808.5:c.169+1926_169+1929dup (FBXO11)	ENSP00000385127.1:n.169+1926_169+1929dup
ENST00000434234.5:c.*124+1725_*124+1728dup (FBXO11)	ENSP00000402692.1:n.*124+1725_*124+1728du...
ENST00000445503.5:c.*3056_*3059dup (MSH6)	ENSP00000405294.1:n.*3056_*3059dup
ENST00000538136.1:c.2803_2806dup (MSH6)	ENSP00000438580.1:p.Thr936ArgfsTer?
ENST00000540021.5:c.3319_3322dup (MSH6)	ENSP00000446475.1:p.Thr1108ArgfsTer?
ENST00000614496.4:c.2803_2806dup (MSH6)	ENSP00000477844.1:p.Thr936ArgfsTer?
ENST00000622629.4:c.613_616dup (MSH6)	ENSP00000482078.1:p.Thr206ArgfsTer16
NM_000179.2:c.3709_3712dup , LRG_219t1:c.3709_3712dup (MSH6)	NP_000170.1:p.Thr1238ArgfsTer?
NM_001281492.1:c.3319_3322dup (MSH6)	NP_001268421.1:p.Thr1108ArgfsTer?
NM_001281493.1:c.2803_2806dup (MSH6)	NP_001268422.1:p.Thr936ArgfsTer?
NM_001281494.1:c.2803_2806dup (MSH6)	NP_001268423.1:p.Thr936ArgfsTer?
XM_005264271.1:c.3412_3415dup (MSH6)	XP_005264328.1:p.Thr1139ArgfsTer?
XM_011532798.1:c.3526_3529dup (MSH6)	XP_011531100.1:p.Thr1177ArgfsTer?
XM_011532799.1:c.3412_3415dup (MSH6)	XP_011531101.1:p.Thr1139ArgfsTer?
XM_011532800.1:c.3412_3415dup (MSH6)	XP_011531102.1:p.Thr1139ArgfsTer?
XM_024452819.1:c.3709_3712dup (MSH6)	XP_024308587.1:p.Thr1238ArgfsTer?
XM_024452820.1:c.3526_3529dup (MSH6)	XP_024308588.1:p.Thr1177ArgfsTer?
XM_024452821.1:c.3412_3415dup (MSH6)	XP_024308589.1:p.Thr1139ArgfsTer?
XM_024452822.1:c.2803_2806dup (MSH6)	XP_024308590.1:p.Thr936ArgfsTer?
NM_000179.3:c.3709_3712dup (MSH6) MANE Select	NP_000170.1:p.Thr1238ArgfsTer?
NM_001281492.2:c.3319_3322dup (MSH6)	NP_001268421.1:p.Thr1108ArgfsTer?
NM_001281493.2:c.2803_2806dup (MSH6)	NP_001268422.1:p.Thr936ArgfsTer?
NM_001281494.2:c.2803_2806dup (MSH6)	NP_001268423.1:p.Thr936ArgfsTer?