Canonical Allele Identifier: CA1649447

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs766653592
• ExAC: 2:48027548 T / TTTAATGTC
• MyVariant Identifiers: chr2:g.48027548_48027549insTTAATGTC (hg19) ; chr2:g.47800409_47800410insTTAATGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800409_47800410insTTAATGTC , CM000664.2:g.47800409_47800410insTTAATGTC	GRCh38
NC_000002.11:g.48027548_48027549insTTAATGTC , CM000664.1:g.48027548_48027549insTTAATGTC	GRCh37
NC_000002.10:g.47881052_47881053insTTAATGTC	NCBI36
NG_007111.1:g.22263_22264insTTAATGTC , LRG_219:g.22263_22264insTTAATGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2129_2130insTTAATGTC (MSH6)	ENSP00000406248.2:p.Glu711Ter
ENST00000420813.6:c.2129_2130insTTAATGTC (MSH6)	ENSP00000390382.2:p.Glu711Ter
ENST00000455383.6:c.2129_2130insTTAATGTC (MSH6)	ENSP00000397484.2:p.Glu711Ter
ENST00000700004.2:c.2426_2427insTTAATGTC (MSH6)	ENSP00000514752.2:p.Glu810Ter
ENST00000699999.1:n.2510_2511insTTAATGTC (MSH6)
ENST00000700000.1:c.1606+820_1606+821insTTAATGTC (MSH6)	ENSP00000514749.1:n.1606+820_1606+821insTTAATGTC
ENST00000700002.1:c.2432_2433insTTAATGTC (MSH6)	ENSP00000514750.1:p.Glu812Ter
ENST00000700003.1:c.628-3011_628-3010insTTAATGTC (MSH6)	ENSP00000514751.1:n.628-3011_628-3010insTTAATGTC
ENST00000700004.1:c.1583_1584insTTAATGTC (MSH6)	ENSP00000514752.1:p.Glu529Ter
ENST00000234420.11:c.2426_2427insTTAATGTC (MSH6) MANE Select	ENSP00000234420.5:p.Glu810Ter
ENST00000540021.6:c.2036_2037insTTAATGTC (MSH6)	ENSP00000446475.1:p.Glu680Ter
ENST00000652107.1:c.2129_2130insTTAATGTC (MSH6)	ENSP00000498629.1:p.Glu711Ter
ENST00000673637.1:c.2129_2130insTTAATGTC (MSH6)	ENSP00000501310.1:p.Glu711Ter
ENST00000234420.9:c.2426_2427insTTAATGTC (MSH6)	ENSP00000234420.4:p.Glu810Ter
ENST00000405808.5:c.169+7785_169+7786insGACATTAA (FBXO11)	ENSP00000385127.1:n.169+7785_169+7786insGACATTAA
ENST00000434234.5:c.*124+7584_*124+7585insGACATTAA (FBXO11)	ENSP00000402692.1:n.*124+7584_*124+7585insGACATTAA
ENST00000445503.5:c.*1773_*1774insTTAATGTC (MSH6)	ENSP00000405294.1:n.*1773_*1774insTTAATGTC
ENST00000538136.1:c.1520_1521insTTAATGTC (MSH6)	ENSP00000438580.1:p.Glu508Ter
ENST00000540021.5:c.2036_2037insTTAATGTC (MSH6)	ENSP00000446475.1:p.Glu680Ter
ENST00000614496.4:c.1520_1521insTTAATGTC (MSH6)	ENSP00000477844.1:p.Glu508Ter
ENST00000616033.4:c.2423_2424insTTAATGTC (MSH6)	ENSP00000480261.1:p.Glu809Ter
ENST00000622629.4:c.-671_-670insTTAATGTC (MSH6)	ENSP00000482078.1:n.-671_-670insTTAATGTC
NM_000179.2:c.2426_2427insTTAATGTC , LRG_219t1:c.2426_2427insTTAATGTC (MSH6)	NP_000170.1:p.Glu810Ter
NM_001281492.1:c.2036_2037insTTAATGTC (MSH6)	NP_001268421.1:p.Glu680Ter
NM_001281493.1:c.1520_1521insTTAATGTC (MSH6)	NP_001268422.1:p.Glu508Ter
NM_001281494.1:c.1520_1521insTTAATGTC (MSH6)	NP_001268423.1:p.Glu508Ter
XM_005264271.1:c.2129_2130insTTAATGTC (MSH6)	XP_005264328.1:p.Glu711Ter
XM_011532798.1:c.2243_2244insTTAATGTC (MSH6)	XP_011531100.1:p.Glu749Ter
XM_011532799.1:c.2129_2130insTTAATGTC (MSH6)	XP_011531101.1:p.Glu711Ter
XM_011532800.1:c.2129_2130insTTAATGTC (MSH6)	XP_011531102.1:p.Glu711Ter
XM_024452819.1:c.2426_2427insTTAATGTC (MSH6)	XP_024308587.1:p.Glu810Ter
XM_024452820.1:c.2243_2244insTTAATGTC (MSH6)	XP_024308588.1:p.Glu749Ter
XM_024452821.1:c.2129_2130insTTAATGTC (MSH6)	XP_024308589.1:p.Glu711Ter
XM_024452822.1:c.1520_1521insTTAATGTC (MSH6)	XP_024308590.1:p.Glu508Ter
NM_000179.3:c.2426_2427insTTAATGTC (MSH6) MANE Select	NP_000170.1:p.Glu810Ter
NM_001281492.2:c.2036_2037insTTAATGTC (MSH6)	NP_001268421.1:p.Glu680Ter
NM_001281493.2:c.1520_1521insTTAATGTC (MSH6)	NP_001268422.1:p.Glu508Ter
NM_001281494.2:c.1520_1521insTTAATGTC (MSH6)	NP_001268423.1:p.Glu508Ter