Canonical Allele Identifier: CA2658949754

Gene: MSH6 FBXO11

Linked Data

• gnomAD v4: 2-47799992-G-GGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799994_47799996dup , CM000664.2:g.47799994_47799996dup	GRCh38
NC_000002.11:g.48027133_48027135dup , CM000664.1:g.48027133_48027135dup	GRCh37
NC_000002.10:g.47880637_47880639dup	NCBI36
NG_007111.1:g.21848_21850dup , LRG_219:g.21848_21850dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.1714_1716dup (MSH6)	ENSP00000406248.2:p.Leu572_Thr573insLeu
ENST00000420813.6:c.1714_1716dup (MSH6)	ENSP00000390382.2:p.Leu572_Thr573insLeu
ENST00000455383.6:c.1714_1716dup (MSH6)	ENSP00000397484.2:p.Leu572_Thr573insLeu
ENST00000700004.2:c.2011_2013dup (MSH6)	ENSP00000514752.2:p.Leu671_Thr672insLeu
ENST00000699999.1:n.2095_2097dup (MSH6)
ENST00000700000.1:c.1606+405_1606+407dup (MSH6)	ENSP00000514749.1:n.1606+405_1606+407dup
ENST00000700002.1:c.2017_2019dup (MSH6)	ENSP00000514750.1:p.Leu673_Thr674insLeu
ENST00000700003.1:c.628-3426_628-3424dup (MSH6)	ENSP00000514751.1:n.628-3426_628-3424dup
ENST00000700004.1:c.1168_1170dup (MSH6)	ENSP00000514752.1:p.Leu390_Thr391insLeu
ENST00000234420.11:c.2011_2013dup (MSH6) MANE Select	ENSP00000234420.5:p.Leu671_Thr672insLeu
ENST00000540021.6:c.1621_1623dup (MSH6)	ENSP00000446475.1:p.Leu541_Thr542insLeu
ENST00000652107.1:c.1714_1716dup (MSH6)	ENSP00000498629.1:p.Leu572_Thr573insLeu
ENST00000673637.1:c.1714_1716dup (MSH6)	ENSP00000501310.1:p.Leu572_Thr573insLeu
ENST00000234420.9:c.2011_2013dup (MSH6)	ENSP00000234420.4:p.Leu671_Thr672insLeu
ENST00000405808.5:c.169+8200_169+8202dup (FBXO11)	ENSP00000385127.1:n.169+8200_169+8202dup
ENST00000434234.5:c.*124+7999_*124+8001dup (FBXO11)	ENSP00000402692.1:n.*124+7999_*124+8001du...
ENST00000445503.5:c.*1358_*1360dup (MSH6)	ENSP00000405294.1:n.*1358_*1360dup
ENST00000538136.1:c.1105_1107dup (MSH6)	ENSP00000438580.1:p.Leu369_Thr370insLeu
ENST00000540021.5:c.1621_1623dup (MSH6)	ENSP00000446475.1:p.Leu541_Thr542insLeu
ENST00000614496.4:c.1105_1107dup (MSH6)	ENSP00000477844.1:p.Leu369_Thr370insLeu
ENST00000616033.4:c.2008_2010dup (MSH6)	ENSP00000480261.1:p.Leu670_Thr671insLeu
ENST00000622629.4:c.-1086_-1084dup (MSH6)	ENSP00000482078.1:n.-1086_-1084dup
NM_000179.2:c.2011_2013dup , LRG_219t1:c.2011_2013dup (MSH6)	NP_000170.1:p.Leu671_Thr672insLeu
NM_001281492.1:c.1621_1623dup (MSH6)	NP_001268421.1:p.Leu541_Thr542insLeu
NM_001281493.1:c.1105_1107dup (MSH6)	NP_001268422.1:p.Leu369_Thr370insLeu
NM_001281494.1:c.1105_1107dup (MSH6)	NP_001268423.1:p.Leu369_Thr370insLeu
XM_005264271.1:c.1714_1716dup (MSH6)	XP_005264328.1:p.Leu572_Thr573insLeu
XM_011532798.1:c.1828_1830dup (MSH6)	XP_011531100.1:p.Leu610_Thr611insLeu
XM_011532799.1:c.1714_1716dup (MSH6)	XP_011531101.1:p.Leu572_Thr573insLeu
XM_011532800.1:c.1714_1716dup (MSH6)	XP_011531102.1:p.Leu572_Thr573insLeu
XM_024452819.1:c.2011_2013dup (MSH6)	XP_024308587.1:p.Leu671_Thr672insLeu
XM_024452820.1:c.1828_1830dup (MSH6)	XP_024308588.1:p.Leu610_Thr611insLeu
XM_024452821.1:c.1714_1716dup (MSH6)	XP_024308589.1:p.Leu572_Thr573insLeu
XM_024452822.1:c.1105_1107dup (MSH6)	XP_024308590.1:p.Leu369_Thr370insLeu
NM_000179.3:c.2011_2013dup (MSH6) MANE Select	NP_000170.1:p.Leu671_Thr672insLeu
NM_001281492.2:c.1621_1623dup (MSH6)	NP_001268421.1:p.Leu541_Thr542insLeu
NM_001281493.2:c.1105_1107dup (MSH6)	NP_001268422.1:p.Leu369_Thr370insLeu
NM_001281494.2:c.1105_1107dup (MSH6)	NP_001268423.1:p.Leu369_Thr370insLeu