Canonical Allele Identifier: CA2573134794

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1375665
• ClinVar RCV Id: RCV001883408
• dbSNP Id: rs2104561128

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806570_47806571dup , CM000664.2:g.47806570_47806571dup	GRCh38
NC_000002.11:g.48033709_48033710dup , CM000664.1:g.48033709_48033710dup	GRCh37
NC_000002.10:g.47887213_47887214dup	NCBI36
NG_007111.1:g.28424_28425dup , LRG_219:g.28424_28425dup
NG_008397.1:g.104105_104106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3623_3624dup (MSH6)	ENSP00000406248.2:p.Leu1209IlefsTer20
ENST00000420813.6:c.3623_3624dup (MSH6)	ENSP00000390382.2:p.Leu1209IlefsTer20
ENST00000455383.6:c.3623_3624dup (MSH6)	ENSP00000397484.2:p.Leu1209IlefsTer20
ENST00000700004.2:c.3536_3537dup (MSH6)	ENSP00000514752.2:p.Leu1180IlefsTer20
ENST00000699999.1:n.4594_4595dup (MSH6)
ENST00000700000.1:c.2354_2355dup (MSH6)	ENSP00000514749.1:p.Leu786IlefsTer20
ENST00000700002.1:c.3926_3927dup (MSH6)	ENSP00000514750.1:p.Leu1310IlefsTer20
ENST00000700003.1:c.1375_1376dup (MSH6)	ENSP00000514751.1:n.1375_1376dup
ENST00000700004.1:c.2693_2694dup (MSH6)	ENSP00000514752.1:p.Leu899IlefsTer20
ENST00000700005.1:n.2771_2772dup (MSH6)
ENST00000700006.1:n.5078_5079dup (MSH6)
ENST00000700007.1:n.2515_2516dup (MSH6)
ENST00000700008.1:n.2182_2183dup (MSH6)
ENST00000700009.1:n.2584_2585dup (MSH6)
ENST00000700010.1:n.1329_1330dup (MSH6)
ENST00000700011.1:n.3214_3215dup (MSH6)
ENST00000682451.1:n.4177_4178dup (FBXO11)
ENST00000684712.1:n.4439_4440dup (FBXO11)
ENST00000234420.11:c.3920_3921dup (MSH6) MANE Select	ENSP00000234420.5:p.Leu1308IlefsTer20
ENST00000540021.6:c.3530_3531dup (MSH6)	ENSP00000446475.1:p.Leu1178IlefsTer20
ENST00000652107.1:c.3623_3624dup (MSH6)	ENSP00000498629.1:p.Leu1209IlefsTer20
ENST00000673637.1:c.3623_3624dup (MSH6)	ENSP00000501310.1:p.Leu1209IlefsTer20
ENST00000234420.9:c.3920_3921dup (MSH6)	ENSP00000234420.4:p.Leu1308IlefsTer20
ENST00000405808.5:c.169+1624_169+1625dup (FBXO11)	ENSP00000385127.1:n.169+1624_169+1625dup
ENST00000434234.5:c.*124+1423_*124+1424dup (FBXO11)	ENSP00000402692.1:n.*124+1423_*124+1424dup
ENST00000445503.5:c.*3267_*3268dup (MSH6)	ENSP00000405294.1:n.*3267_*3268dup
ENST00000538136.1:c.3014_3015dup (MSH6)	ENSP00000438580.1:p.Leu1006IlefsTer20
ENST00000540021.5:c.3530_3531dup (MSH6)	ENSP00000446475.1:p.Leu1178IlefsTer20
ENST00000614496.4:c.3014_3015dup (MSH6)	ENSP00000477844.1:p.Leu1006IlefsTer20
ENST00000622629.4:c.821_822dup (MSH6)	ENSP00000482078.1:p.Leu275IlefsTer20
NM_000179.2:c.3920_3921dup , LRG_219t1:c.3920_3921dup (MSH6)	NP_000170.1:p.Leu1308IlefsTer20
NM_001281492.1:c.3530_3531dup (MSH6)	NP_001268421.1:p.Leu1178IlefsTer20
NM_001281493.1:c.3014_3015dup (MSH6)	NP_001268422.1:p.Leu1006IlefsTer20
NM_001281494.1:c.3014_3015dup (MSH6)	NP_001268423.1:p.Leu1006IlefsTer20
XM_005264271.1:c.3623_3624dup (MSH6)	XP_005264328.1:p.Leu1209IlefsTer20
XM_011532798.1:c.3737_3738dup (MSH6)	XP_011531100.1:p.Leu1247IlefsTer20
XM_011532799.1:c.3623_3624dup (MSH6)	XP_011531101.1:p.Leu1209IlefsTer20
XM_011532800.1:c.3623_3624dup (MSH6)	XP_011531102.1:p.Leu1209IlefsTer20
XM_024452819.1:c.4013_4014dup (MSH6)	XP_024308587.1:p.Leu1339IlefsTer20
XM_024452820.1:c.3830_3831dup (MSH6)	XP_024308588.1:p.Leu1278IlefsTer20
XM_024452821.1:c.3716_3717dup (MSH6)	XP_024308589.1:p.Leu1240IlefsTer20
XM_024452822.1:c.3107_3108dup (MSH6)	XP_024308590.1:p.Leu1037IlefsTer20
NM_000179.3:c.3920_3921dup (MSH6) MANE Select	NP_000170.1:p.Leu1308IlefsTer20
NM_001281492.2:c.3530_3531dup (MSH6)	NP_001268421.1:p.Leu1178IlefsTer20
NM_001281493.2:c.3014_3015dup (MSH6)	NP_001268422.1:p.Leu1006IlefsTer20
NM_001281494.2:c.3014_3015dup (MSH6)	NP_001268423.1:p.Leu1006IlefsTer20