Canonical Allele Identifier: CA2499216116

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1050411
• ClinVar RCV Id: RCV001357805 ; RCV003450003
• dbSNP Id: rs2104405276

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800395_47800396del , CM000664.2:g.47800395_47800396del	GRCh38
NC_000002.11:g.48027534_48027535del , CM000664.1:g.48027534_48027535del	GRCh37
NC_000002.10:g.47881038_47881039del	NCBI36
NG_007111.1:g.22249_22250del , LRG_219:g.22249_22250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2115_2116del (MSH6)	ENSP00000406248.2:p.Lys705AsnfsTer15
ENST00000420813.6:c.2115_2116del (MSH6)	ENSP00000390382.2:p.Lys705AsnfsTer15
ENST00000455383.6:c.2115_2116del (MSH6)	ENSP00000397484.2:p.Lys705AsnfsTer15
ENST00000700004.2:c.2412_2413del (MSH6)	ENSP00000514752.2:p.Lys804AsnfsTer15
ENST00000699999.1:n.2496_2497del (MSH6)
ENST00000700000.1:c.1606+806_1606+807del (MSH6)	ENSP00000514749.1:n.1606+806_1606+807del
ENST00000700002.1:c.2418_2419del (MSH6)	ENSP00000514750.1:p.Lys806AsnfsTer15
ENST00000700003.1:c.628-3025_628-3024del (MSH6)	ENSP00000514751.1:n.628-3025_628-3024del
ENST00000700004.1:c.1569_1570del (MSH6)	ENSP00000514752.1:p.Lys523AsnfsTer15
ENST00000234420.11:c.2412_2413del (MSH6) MANE Select	ENSP00000234420.5:p.Lys804AsnfsTer15
ENST00000540021.6:c.2022_2023del (MSH6)	ENSP00000446475.1:p.Lys674AsnfsTer15
ENST00000652107.1:c.2115_2116del (MSH6)	ENSP00000498629.1:p.Lys705AsnfsTer15
ENST00000673637.1:c.2115_2116del (MSH6)	ENSP00000501310.1:p.Lys705AsnfsTer15
ENST00000234420.9:c.2412_2413del (MSH6)	ENSP00000234420.4:p.Lys804AsnfsTer15
ENST00000405808.5:c.169+7801_169+7802del (FBXO11)	ENSP00000385127.1:n.169+7801_169+7802del
ENST00000434234.5:c.*124+7600_*124+7601del (FBXO11)	ENSP00000402692.1:n.*124+7600_*124+7601del
ENST00000445503.5:c.*1759_*1760del (MSH6)	ENSP00000405294.1:n.*1759_*1760del
ENST00000538136.1:c.1506_1507del (MSH6)	ENSP00000438580.1:p.Lys502AsnfsTer15
ENST00000540021.5:c.2022_2023del (MSH6)	ENSP00000446475.1:p.Lys674AsnfsTer15
ENST00000614496.4:c.1506_1507del (MSH6)	ENSP00000477844.1:p.Lys502AsnfsTer15
ENST00000616033.4:c.2409_2410del (MSH6)	ENSP00000480261.1:p.Lys803AsnfsTer15
ENST00000622629.4:c.-685_-684del (MSH6)	ENSP00000482078.1:n.-685_-684del
NM_000179.2:c.2412_2413del , LRG_219t1:c.2412_2413del (MSH6)	NP_000170.1:p.Lys804AsnfsTer15
NM_001281492.1:c.2022_2023del (MSH6)	NP_001268421.1:p.Lys674AsnfsTer15
NM_001281493.1:c.1506_1507del (MSH6)	NP_001268422.1:p.Lys502AsnfsTer15
NM_001281494.1:c.1506_1507del (MSH6)	NP_001268423.1:p.Lys502AsnfsTer15
XM_005264271.1:c.2115_2116del (MSH6)	XP_005264328.1:p.Lys705AsnfsTer15
XM_011532798.1:c.2229_2230del (MSH6)	XP_011531100.1:p.Lys743AsnfsTer15
XM_011532799.1:c.2115_2116del (MSH6)	XP_011531101.1:p.Lys705AsnfsTer15
XM_011532800.1:c.2115_2116del (MSH6)	XP_011531102.1:p.Lys705AsnfsTer15
XM_024452819.1:c.2412_2413del (MSH6)	XP_024308587.1:p.Lys804AsnfsTer15
XM_024452820.1:c.2229_2230del (MSH6)	XP_024308588.1:p.Lys743AsnfsTer15
XM_024452821.1:c.2115_2116del (MSH6)	XP_024308589.1:p.Lys705AsnfsTer15
XM_024452822.1:c.1506_1507del (MSH6)	XP_024308590.1:p.Lys502AsnfsTer15
NM_000179.3:c.2412_2413del (MSH6) MANE Select	NP_000170.1:p.Lys804AsnfsTer15
NM_001281492.2:c.2022_2023del (MSH6)	NP_001268421.1:p.Lys674AsnfsTer15
NM_001281493.2:c.1506_1507del (MSH6)	NP_001268422.1:p.Lys502AsnfsTer15
NM_001281494.2:c.1506_1507del (MSH6)	NP_001268423.1:p.Lys502AsnfsTer15