Canonical Allele Identifier: CA2658970401

Gene: MSH6 FBXO11

Linked Data

• gnomAD v4: 2-47806795-AGTGAAAGGTCAACTGTAGATGCTGAAGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806798_47806826del , CM000664.2:g.47806798_47806826del	GRCh38
NC_000002.11:g.48033937_48033965del , CM000664.1:g.48033937_48033965del	GRCh37
NC_000002.10:g.47887441_47887469del	NCBI36
NG_007111.1:g.28652_28680del , LRG_219:g.28652_28680del
NG_008397.1:g.103852_103880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3724_3752del (MSH6)	ENSP00000406248.2:p.Glu1242ProfsTer2
ENST00000420813.6:c.3724_3752del (MSH6)	ENSP00000390382.2:p.Glu1242ProfsTer2
ENST00000455383.6:c.3724_3752del (MSH6)	ENSP00000397484.2:p.Glu1242ProfsTer2
ENST00000700004.2:c.3637_3665del (MSH6)	ENSP00000514752.2:p.Glu1213ProfsTer2
ENST00000699999.1:n.4695_4723del (MSH6)
ENST00000700000.1:c.2455_2483del (MSH6)	ENSP00000514749.1:p.Glu819ProfsTer2
ENST00000700002.1:c.4027_4055del (MSH6)	ENSP00000514750.1:p.Glu1343ProfsTer2
ENST00000700003.1:c.1476_1504del (MSH6)	ENSP00000514751.1:n.1476_1504del
ENST00000700004.1:c.2794_2822del (MSH6)	ENSP00000514752.1:p.Glu932ProfsTer2
ENST00000700005.1:n.2999_3027del (MSH6)
ENST00000700007.1:n.2616_2644del (MSH6)
ENST00000700008.1:n.2283_2311del (MSH6)
ENST00000700009.1:n.2685_2713del (MSH6)
ENST00000700010.1:n.1430_1458del (MSH6)
ENST00000700011.1:n.3315_3343del (MSH6)
ENST00000682451.1:n.3924_3952del (FBXO11)
ENST00000684712.1:n.4186_4214del (FBXO11)
ENST00000234420.11:c.4021_4049del (MSH6) MANE Select	ENSP00000234420.5:p.Glu1341ProfsTer2
ENST00000540021.6:c.3631_3659del (MSH6)	ENSP00000446475.1:p.Glu1211ProfsTer2
ENST00000652107.1:c.3724_3752del (MSH6)	ENSP00000498629.1:p.Glu1242ProfsTer2
ENST00000673637.1:c.3724_3752del (MSH6)	ENSP00000501310.1:p.Glu1242ProfsTer2
ENST00000234420.9:c.4021_4049del (MSH6)	ENSP00000234420.4:p.Glu1341ProfsTer2
ENST00000405808.5:c.169+1371_169+1399del (FBXO11)	ENSP00000385127.1:n.169+1371_169+1399del
ENST00000434234.5:c.*124+1170_*124+1198del (FBXO11)	ENSP00000402692.1:n.*124+1170_*124+1198del
ENST00000445503.5:c.*3368_*3396del (MSH6)	ENSP00000405294.1:n.*3368_*3396del
ENST00000465204.5:n.3086_3114del (FBXO11)
ENST00000538136.1:c.3115_3143del (MSH6)	ENSP00000438580.1:p.Glu1039ProfsTer2
ENST00000540021.5:c.3631_3659del (MSH6)	ENSP00000446475.1:p.Glu1211ProfsTer2
ENST00000614496.4:c.3115_3143del (MSH6)	ENSP00000477844.1:p.Glu1039ProfsTer2
ENST00000622629.4:c.922_950del (MSH6)	ENSP00000482078.1:p.Glu308ProfsTer2
NM_000179.2:c.4021_4049del , LRG_219t1:c.4021_4049del (MSH6)	NP_000170.1:p.Glu1341ProfsTer2
NM_001281492.1:c.3631_3659del (MSH6)	NP_001268421.1:p.Glu1211ProfsTer2
NM_001281493.1:c.3115_3143del (MSH6)	NP_001268422.1:p.Glu1039ProfsTer2
NM_001281494.1:c.3115_3143del (MSH6)	NP_001268423.1:p.Glu1039ProfsTer2
XM_005264271.1:c.3724_3752del (MSH6)	XP_005264328.1:p.Glu1242ProfsTer2
XM_011532798.1:c.3838_3866del (MSH6)	XP_011531100.1:p.Glu1280ProfsTer2
XM_011532799.1:c.3724_3752del (MSH6)	XP_011531101.1:p.Glu1242ProfsTer2
XM_011532800.1:c.3724_3752del (MSH6)	XP_011531102.1:p.Glu1242ProfsTer2
XM_024452819.1:c.4114_4142del (MSH6)	XP_024308587.1:p.Glu1372ProfsTer2
XM_024452820.1:c.3931_3959del (MSH6)	XP_024308588.1:p.Glu1311ProfsTer2
XM_024452821.1:c.3817_3845del (MSH6)	XP_024308589.1:p.Glu1273ProfsTer2
XM_024452822.1:c.3208_3236del (MSH6)	XP_024308590.1:p.Glu1070ProfsTer2
NM_000179.3:c.4021_4049del (MSH6) MANE Select	NP_000170.1:p.Glu1341ProfsTer2
NM_001281492.2:c.3631_3659del (MSH6)	NP_001268421.1:p.Glu1211ProfsTer2
NM_001281493.2:c.3115_3143del (MSH6)	NP_001268422.1:p.Glu1039ProfsTer2
NM_001281494.2:c.3115_3143del (MSH6)	NP_001268423.1:p.Glu1039ProfsTer2