Canonical Allele Identifier: CA2739274368

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2864305
• ClinVar RCV Id: RCV003759358

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800443_47800444delinsAA , CM000664.2:g.47800443_47800444delinsAA	GRCh38
NC_000002.11:g.48027582_48027583delinsAA , CM000664.1:g.48027582_48027583delinsAA	GRCh37
NC_000002.10:g.47881086_47881087delinsAA	NCBI36
NG_007111.1:g.22297_22298delinsAA , LRG_219:g.22297_22298delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2163_2164delinsAA (MSH6)	ENSP00000406248.2:p.Leu722Ile
ENST00000420813.6:c.2163_2164delinsAA (MSH6)	ENSP00000390382.2:p.Leu722Ile
ENST00000455383.6:c.2163_2164delinsAA (MSH6)	ENSP00000397484.2:p.Leu722Ile
ENST00000700004.2:c.2460_2461delinsAA (MSH6)	ENSP00000514752.2:p.Leu821Ile
ENST00000699999.1:n.2544_2545delinsAA (MSH6)
ENST00000700000.1:c.1606+854_1606+855delinsAA (MSH6)	ENSP00000514749.1:n.1606+854_1606+855delinsAA
ENST00000700002.1:c.2466_2467delinsAA (MSH6)	ENSP00000514750.1:p.Leu823Ile
ENST00000700003.1:c.628-2977_628-2976delinsAA (MSH6)	ENSP00000514751.1:n.628-2977_628-2976delinsAA
ENST00000700004.1:c.1617_1618delinsAA (MSH6)	ENSP00000514752.1:p.Leu540Ile
ENST00000234420.11:c.2460_2461delinsAA (MSH6) MANE Select	ENSP00000234420.5:p.Leu821Ile
ENST00000540021.6:c.2070_2071delinsAA (MSH6)	ENSP00000446475.1:p.Leu691Ile
ENST00000652107.1:c.2163_2164delinsAA (MSH6)	ENSP00000498629.1:p.Leu722Ile
ENST00000673637.1:c.2163_2164delinsAA (MSH6)	ENSP00000501310.1:p.Leu722Ile
ENST00000234420.9:c.2460_2461delinsAA (MSH6)	ENSP00000234420.4:p.Leu821Ile
ENST00000405808.5:c.169+7751_169+7752delinsTT (FBXO11)	ENSP00000385127.1:n.169+7751_169+7752delinsTT
ENST00000434234.5:c.*124+7550_*124+7551delinsTT (FBXO11)	ENSP00000402692.1:n.*124+7550_*124+7551delinsTT
ENST00000445503.5:c.*1807_*1808delinsAA (MSH6)	ENSP00000405294.1:n.*1807_*1808delinsAA
ENST00000538136.1:c.1554_1555delinsAA (MSH6)	ENSP00000438580.1:p.Leu519Ile
ENST00000540021.5:c.2070_2071delinsAA (MSH6)	ENSP00000446475.1:p.Leu691Ile
ENST00000614496.4:c.1554_1555delinsAA (MSH6)	ENSP00000477844.1:p.Leu519Ile
ENST00000616033.4:c.2457_2458delinsAA (MSH6)	ENSP00000480261.1:p.Leu820Ile
ENST00000622629.4:c.-637_-636delinsAA (MSH6)	ENSP00000482078.1:n.-637_-636delinsAA
NM_000179.2:c.2460_2461delinsAA , LRG_219t1:c.2460_2461delinsAA (MSH6)	NP_000170.1:p.Leu821Ile
NM_001281492.1:c.2070_2071delinsAA (MSH6)	NP_001268421.1:p.Leu691Ile
NM_001281493.1:c.1554_1555delinsAA (MSH6)	NP_001268422.1:p.Leu519Ile
NM_001281494.1:c.1554_1555delinsAA (MSH6)	NP_001268423.1:p.Leu519Ile
XM_005264271.1:c.2163_2164delinsAA (MSH6)	XP_005264328.1:p.Leu722Ile
XM_011532798.1:c.2277_2278delinsAA (MSH6)	XP_011531100.1:p.Leu760Ile
XM_011532799.1:c.2163_2164delinsAA (MSH6)	XP_011531101.1:p.Leu722Ile
XM_011532800.1:c.2163_2164delinsAA (MSH6)	XP_011531102.1:p.Leu722Ile
XM_024452819.1:c.2460_2461delinsAA (MSH6)	XP_024308587.1:p.Leu821Ile
XM_024452820.1:c.2277_2278delinsAA (MSH6)	XP_024308588.1:p.Leu760Ile
XM_024452821.1:c.2163_2164delinsAA (MSH6)	XP_024308589.1:p.Leu722Ile
XM_024452822.1:c.1554_1555delinsAA (MSH6)	XP_024308590.1:p.Leu519Ile
NM_000179.3:c.2460_2461delinsAA (MSH6) MANE Select	NP_000170.1:p.Leu821Ile
NM_001281492.2:c.2070_2071delinsAA (MSH6)	NP_001268421.1:p.Leu691Ile
NM_001281493.2:c.1554_1555delinsAA (MSH6)	NP_001268422.1:p.Leu519Ile
NM_001281494.2:c.1554_1555delinsAA (MSH6)	NP_001268423.1:p.Leu519Ile