Canonical Allele Identifier: CA279679

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 218075
• ClinVar RCV Id: RCV000202018
• dbSNP Id: rs863225417
• MyVariant Identifiers: chr2:g.48033728_48033729insTCAAAAGGGACATAGAAAA (hg19) ; chr2:g.47806589_47806590insTCAAAAGGGACATAGAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806589_47806590insTCAAAAGGGACATAGAAAA , CM000664.2:g.47806589_47806590insTCAAAAGGGACATAGAAAA	GRCh38
NC_000002.11:g.48033728_48033729insTCAAAAGGGACATAGAAAA , CM000664.1:g.48033728_48033729insTCAAAAGGGACATAGAAAA	GRCh37
NC_000002.10:g.47887232_47887233insTCAAAAGGGACATAGAAAA	NCBI36
NG_007111.1:g.28443_28444insTCAAAAGGGACATAGAAAA , LRG_219:g.28443_28444insTCAAAAGGGACATAGAAAA
NG_008397.1:g.104086_104087insTTTTCTATGTCCCTTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3642_3643insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000406248.2:p.Gln1215SerfsTer5
ENST00000420813.6:c.3642_3643insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000390382.2:p.Gln1215SerfsTer5
ENST00000455383.6:c.3642_3643insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000397484.2:p.Gln1215SerfsTer5
ENST00000700004.2:c.3555_3556insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000514752.2:p.Gln1186SerfsTer5
ENST00000699999.1:n.4613_4614insTCAAAAGGGACATAGAAAA (MSH6)
ENST00000700000.1:c.2373_2374insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000514749.1:p.Gln792SerfsTer5
ENST00000700002.1:c.3945_3946insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000514750.1:p.Gln1316SerfsTer5
ENST00000700003.1:c.1394_1395insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000514751.1:n.1394_1395insTCAAAAGGGACATAGAAAA
ENST00000700004.1:c.2712_2713insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000514752.1:p.Gln905SerfsTer5
ENST00000700005.1:n.2790_2791insTCAAAAGGGACATAGAAAA (MSH6)
ENST00000700006.1:n.5097_5098insTCAAAAGGGACATAGAAAA (MSH6)
ENST00000700007.1:n.2534_2535insTCAAAAGGGACATAGAAAA (MSH6)
ENST00000700008.1:n.2201_2202insTCAAAAGGGACATAGAAAA (MSH6)
ENST00000700009.1:n.2603_2604insTCAAAAGGGACATAGAAAA (MSH6)
ENST00000700010.1:n.1348_1349insTCAAAAGGGACATAGAAAA (MSH6)
ENST00000700011.1:n.3233_3234insTCAAAAGGGACATAGAAAA (MSH6)
ENST00000682451.1:n.4158_4159insTTTTCTATGTCCCTTTTGA (FBXO11)
ENST00000684712.1:n.4420_4421insTTTTCTATGTCCCTTTTGA (FBXO11)
ENST00000234420.11:c.3939_3940insTCAAAAGGGACATAGAAAA (MSH6) MANE Select	ENSP00000234420.5:p.Gln1314SerfsTer5
ENST00000540021.6:c.3549_3550insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000446475.1:p.Gln1184SerfsTer5
ENST00000652107.1:c.3642_3643insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000498629.1:p.Gln1215SerfsTer5
ENST00000673637.1:c.3642_3643insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000501310.1:p.Gln1215SerfsTer5
ENST00000234420.9:c.3939_3940insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000234420.4:p.Gln1314SerfsTer5
ENST00000405808.5:c.169+1605_169+1606insTTTTCTATGTCCCTTTTGA (FBXO11)	ENSP00000385127.1:n.169+1605_169+1606insTTTTCTATGTCCCTTTTGA
ENST00000434234.5:c.*124+1404_*124+1405insTTTTCTATGTCCCTTTTGA (FBXO11)	ENSP00000402692.1:n.*124+1404_*124+1405insTTTTCTATGTCCCTTTTGA...
ENST00000445503.5:c.*3286_*3287insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000405294.1:n.*3286_*3287insTCAAAAGGGACATAGAAAA
ENST00000538136.1:c.3033_3034insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000438580.1:p.Gln1012SerfsTer5
ENST00000540021.5:c.3549_3550insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000446475.1:p.Gln1184SerfsTer5
ENST00000614496.4:c.3033_3034insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000477844.1:p.Gln1012SerfsTer5
ENST00000622629.4:c.840_841insTCAAAAGGGACATAGAAAA (MSH6)	ENSP00000482078.1:p.Gln281SerfsTer5
NM_000179.2:c.3939_3940insTCAAAAGGGACATAGAAAA , LRG_219t1:c.3939_3940insTCAAAAGGGACATAGAAAA (MSH6)	NP_000170.1:p.Gln1314SerfsTer5
NM_001281492.1:c.3549_3550insTCAAAAGGGACATAGAAAA (MSH6)	NP_001268421.1:p.Gln1184SerfsTer5
NM_001281493.1:c.3033_3034insTCAAAAGGGACATAGAAAA (MSH6)	NP_001268422.1:p.Gln1012SerfsTer5
NM_001281494.1:c.3033_3034insTCAAAAGGGACATAGAAAA (MSH6)	NP_001268423.1:p.Gln1012SerfsTer5
XM_005264271.1:c.3642_3643insTCAAAAGGGACATAGAAAA (MSH6)	XP_005264328.1:p.Gln1215SerfsTer5
XM_011532798.1:c.3756_3757insTCAAAAGGGACATAGAAAA (MSH6)	XP_011531100.1:p.Gln1253SerfsTer5
XM_011532799.1:c.3642_3643insTCAAAAGGGACATAGAAAA (MSH6)	XP_011531101.1:p.Gln1215SerfsTer5
XM_011532800.1:c.3642_3643insTCAAAAGGGACATAGAAAA (MSH6)	XP_011531102.1:p.Gln1215SerfsTer5
XM_024452819.1:c.4032_4033insTCAAAAGGGACATAGAAAA (MSH6)	XP_024308587.1:p.Gln1345SerfsTer5
XM_024452820.1:c.3849_3850insTCAAAAGGGACATAGAAAA (MSH6)	XP_024308588.1:p.Gln1284SerfsTer5
XM_024452821.1:c.3735_3736insTCAAAAGGGACATAGAAAA (MSH6)	XP_024308589.1:p.Gln1246SerfsTer5
XM_024452822.1:c.3126_3127insTCAAAAGGGACATAGAAAA (MSH6)	XP_024308590.1:p.Gln1043SerfsTer5
NM_000179.3:c.3939_3940insTCAAAAGGGACATAGAAAA (MSH6) MANE Select	NP_000170.1:p.Gln1314SerfsTer5
NM_001281492.2:c.3549_3550insTCAAAAGGGACATAGAAAA (MSH6)	NP_001268421.1:p.Gln1184SerfsTer5
NM_001281493.2:c.3033_3034insTCAAAAGGGACATAGAAAA (MSH6)	NP_001268422.1:p.Gln1012SerfsTer5
NM_001281494.2:c.3033_3034insTCAAAAGGGACATAGAAAA (MSH6)	NP_001268423.1:p.Gln1012SerfsTer5