Canonical Allele Identifier: CA2697548071

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2712493
• ClinVar RCV Id: RCV003595142

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806277_47806278del , CM000664.2:g.47806277_47806278del	GRCh38
NC_000002.11:g.48033416_48033417del , CM000664.1:g.48033416_48033417del	GRCh37
NC_000002.10:g.47886920_47886921del	NCBI36
NG_007111.1:g.28131_28132del , LRG_219:g.28131_28132del
NG_008397.1:g.104398_104399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3423_3424del (MSH6)	ENSP00000406248.2:p.Cys1142SerfsTer?
ENST00000420813.6:c.3423_3424del (MSH6)	ENSP00000390382.2:p.Cys1142SerfsTer?
ENST00000455383.6:c.3423_3424del (MSH6)	ENSP00000397484.2:p.Cys1142SerfsTer?
ENST00000700004.2:c.3336_3337del (MSH6)	ENSP00000514752.2:p.Cys1113SerfsTer?
ENST00000699999.1:n.4394_4395del (MSH6)
ENST00000700000.1:c.2154_2155del (MSH6)	ENSP00000514749.1:p.Cys719SerfsTer?
ENST00000700002.1:c.3726_3727del (MSH6)	ENSP00000514750.1:p.Cys1243SerfsTer?
ENST00000700003.1:c.1175_1176del (MSH6)	ENSP00000514751.1:n.1175_1176del
ENST00000700004.1:c.2493_2494del (MSH6)	ENSP00000514752.1:p.Cys832SerfsTer?
ENST00000700005.1:n.2571_2572del (MSH6)
ENST00000700006.1:n.4878_4879del (MSH6)
ENST00000700007.1:n.2315_2316del (MSH6)
ENST00000700008.1:n.1889_1890del (MSH6)
ENST00000700009.1:n.2384_2385del (MSH6)
ENST00000700010.1:n.1129_1130del (MSH6)
ENST00000700011.1:n.3014_3015del (MSH6)
ENST00000682451.1:n.4470_4471del (FBXO11)
ENST00000684712.1:n.4732_4733del (FBXO11)
ENST00000234420.11:c.3720_3721del (MSH6) MANE Select	ENSP00000234420.5:p.Cys1241SerfsTer?
ENST00000540021.6:c.3330_3331del (MSH6)	ENSP00000446475.1:p.Cys1111SerfsTer?
ENST00000652107.1:c.3423_3424del (MSH6)	ENSP00000498629.1:p.Cys1142SerfsTer?
ENST00000673637.1:c.3423_3424del (MSH6)	ENSP00000501310.1:p.Cys1142SerfsTer?
ENST00000234420.9:c.3720_3721del (MSH6)	ENSP00000234420.4:p.Cys1241SerfsTer?
ENST00000405808.5:c.169+1917_169+1918del (FBXO11)	ENSP00000385127.1:n.169+1917_169+1918del
ENST00000434234.5:c.*124+1716_*124+1717del (FBXO11)	ENSP00000402692.1:n.*124+1716_*124+1717del
ENST00000445503.5:c.*3067_*3068del (MSH6)	ENSP00000405294.1:n.*3067_*3068del
ENST00000538136.1:c.2814_2815del (MSH6)	ENSP00000438580.1:p.Cys939SerfsTer?
ENST00000540021.5:c.3330_3331del (MSH6)	ENSP00000446475.1:p.Cys1111SerfsTer?
ENST00000614496.4:c.2814_2815del (MSH6)	ENSP00000477844.1:p.Cys939SerfsTer?
ENST00000622629.4:c.624_625del (MSH6)	ENSP00000482078.1:p.Cys209SerfsTer11
NM_000179.2:c.3720_3721del , LRG_219t1:c.3720_3721del (MSH6)	NP_000170.1:p.Cys1241SerfsTer?
NM_001281492.1:c.3330_3331del (MSH6)	NP_001268421.1:p.Cys1111SerfsTer?
NM_001281493.1:c.2814_2815del (MSH6)	NP_001268422.1:p.Cys939SerfsTer?
NM_001281494.1:c.2814_2815del (MSH6)	NP_001268423.1:p.Cys939SerfsTer?
XM_005264271.1:c.3423_3424del (MSH6)	XP_005264328.1:p.Cys1142SerfsTer?
XM_011532798.1:c.3537_3538del (MSH6)	XP_011531100.1:p.Cys1180SerfsTer?
XM_011532799.1:c.3423_3424del (MSH6)	XP_011531101.1:p.Cys1142SerfsTer?
XM_011532800.1:c.3423_3424del (MSH6)	XP_011531102.1:p.Cys1142SerfsTer?
XM_024452819.1:c.3720_3721del (MSH6)	XP_024308587.1:p.Cys1241SerfsTer?
XM_024452820.1:c.3537_3538del (MSH6)	XP_024308588.1:p.Cys1180SerfsTer?
XM_024452821.1:c.3423_3424del (MSH6)	XP_024308589.1:p.Cys1142SerfsTer?
XM_024452822.1:c.2814_2815del (MSH6)	XP_024308590.1:p.Cys939SerfsTer?
NM_000179.3:c.3720_3721del (MSH6) MANE Select	NP_000170.1:p.Cys1241SerfsTer?
NM_001281492.2:c.3330_3331del (MSH6)	NP_001268421.1:p.Cys1111SerfsTer?
NM_001281493.2:c.2814_2815del (MSH6)	NP_001268422.1:p.Cys939SerfsTer?
NM_001281494.2:c.2814_2815del (MSH6)	NP_001268423.1:p.Cys939SerfsTer?