Canonical Allele Identifier: CA2580067392

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2119724
• ClinVar RCV Id: RCV003033238 ; RCV003455665

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806493_47806497dup , CM000664.2:g.47806493_47806497dup	GRCh38
NC_000002.11:g.48033632_48033636dup , CM000664.1:g.48033632_48033636dup	GRCh37
NC_000002.10:g.47887136_47887140dup	NCBI36
NG_007111.1:g.28347_28351dup , LRG_219:g.28347_28351dup
NG_008397.1:g.104180_104184dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3546_3550dup (MSH6)	ENSP00000406248.2:p.Ile1184ArgfsTer?
ENST00000420813.6:c.3546_3550dup (MSH6)	ENSP00000390382.2:p.Ile1184ArgfsTer?
ENST00000455383.6:c.3546_3550dup (MSH6)	ENSP00000397484.2:p.Ile1184ArgfsTer?
ENST00000700004.2:c.3459_3463dup (MSH6)	ENSP00000514752.2:p.Ile1155ArgfsTer?
ENST00000699999.1:n.4517_4521dup (MSH6)
ENST00000700000.1:c.2277_2281dup (MSH6)	ENSP00000514749.1:p.Ile761ArgfsTer?
ENST00000700002.1:c.3849_3853dup (MSH6)	ENSP00000514750.1:p.Ile1285ArgfsTer?
ENST00000700003.1:c.1298_1302dup (MSH6)	ENSP00000514751.1:n.1298_1302dup
ENST00000700004.1:c.2616_2620dup (MSH6)	ENSP00000514752.1:p.Ile874ArgfsTer?
ENST00000700005.1:n.2694_2698dup (MSH6)
ENST00000700006.1:n.5001_5005dup (MSH6)
ENST00000700007.1:n.2438_2442dup (MSH6)
ENST00000700008.1:n.2105_2109dup (MSH6)
ENST00000700009.1:n.2507_2511dup (MSH6)
ENST00000700010.1:n.1252_1256dup (MSH6)
ENST00000700011.1:n.3137_3141dup (MSH6)
ENST00000682451.1:n.4252_4256dup (FBXO11)
ENST00000684712.1:n.4514_4518dup (FBXO11)
ENST00000234420.11:c.3843_3847dup (MSH6) MANE Select	ENSP00000234420.5:p.Ile1283ArgfsTer?
ENST00000540021.6:c.3453_3457dup (MSH6)	ENSP00000446475.1:p.Ile1153ArgfsTer?
ENST00000652107.1:c.3546_3550dup (MSH6)	ENSP00000498629.1:p.Ile1184ArgfsTer?
ENST00000673637.1:c.3546_3550dup (MSH6)	ENSP00000501310.1:p.Ile1184ArgfsTer?
ENST00000234420.9:c.3843_3847dup (MSH6)	ENSP00000234420.4:p.Ile1283ArgfsTer?
ENST00000405808.5:c.169+1699_169+1703dup (FBXO11)	ENSP00000385127.1:n.169+1699_169+1703dup
ENST00000434234.5:c.*124+1498_*124+1502dup (FBXO11)	ENSP00000402692.1:n.*124+1498_*124+1502dup
ENST00000445503.5:c.*3190_*3194dup (MSH6)	ENSP00000405294.1:n.*3190_*3194dup
ENST00000538136.1:c.2937_2941dup (MSH6)	ENSP00000438580.1:p.Ile981ArgfsTer?
ENST00000540021.5:c.3453_3457dup (MSH6)	ENSP00000446475.1:p.Ile1153ArgfsTer?
ENST00000614496.4:c.2937_2941dup (MSH6)	ENSP00000477844.1:p.Ile981ArgfsTer?
ENST00000622629.4:c.744_748dup (MSH6)	ENSP00000482078.1:p.Ile250ArgfsTer?
NM_000179.2:c.3843_3847dup , LRG_219t1:c.3843_3847dup (MSH6)	NP_000170.1:p.Ile1283ArgfsTer?
NM_001281492.1:c.3453_3457dup (MSH6)	NP_001268421.1:p.Ile1153ArgfsTer?
NM_001281493.1:c.2937_2941dup (MSH6)	NP_001268422.1:p.Ile981ArgfsTer?
NM_001281494.1:c.2937_2941dup (MSH6)	NP_001268423.1:p.Ile981ArgfsTer?
XM_005264271.1:c.3546_3550dup (MSH6)	XP_005264328.1:p.Ile1184ArgfsTer?
XM_011532798.1:c.3660_3664dup (MSH6)	XP_011531100.1:p.Ile1222ArgfsTer?
XM_011532799.1:c.3546_3550dup (MSH6)	XP_011531101.1:p.Ile1184ArgfsTer?
XM_011532800.1:c.3546_3550dup (MSH6)	XP_011531102.1:p.Ile1184ArgfsTer?
XM_024452819.1:c.3936_3940dup (MSH6)	XP_024308587.1:p.Ile1314ArgfsTer?
XM_024452820.1:c.3753_3757dup (MSH6)	XP_024308588.1:p.Ile1253ArgfsTer?
XM_024452821.1:c.3639_3643dup (MSH6)	XP_024308589.1:p.Ile1215ArgfsTer?
XM_024452822.1:c.3030_3034dup (MSH6)	XP_024308590.1:p.Ile1012ArgfsTer?
NM_000179.3:c.3843_3847dup (MSH6) MANE Select	NP_000170.1:p.Ile1283ArgfsTer?
NM_001281492.2:c.3453_3457dup (MSH6)	NP_001268421.1:p.Ile1153ArgfsTer?
NM_001281493.2:c.2937_2941dup (MSH6)	NP_001268422.1:p.Ile981ArgfsTer?
NM_001281494.2:c.2937_2941dup (MSH6)	NP_001268423.1:p.Ile981ArgfsTer?