Canonical Allele Identifier: CA2697548118

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2701756
• ClinVar RCV Id: RCV003594924 ; RCV004366487

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800236_47800237delinsCA , CM000664.2:g.47800236_47800237delinsCA	GRCh38
NC_000002.11:g.48027375_48027376delinsCA , CM000664.1:g.48027375_48027376delinsCA	GRCh37
NC_000002.10:g.47880879_47880880delinsCA	NCBI36
NG_007111.1:g.22090_22091delinsCA , LRG_219:g.22090_22091delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1956_1957delinsCA (MSH6)	ENSP00000406248.2:p.Gly653Ser
ENST00000420813.6:c.1956_1957delinsCA (MSH6)	ENSP00000390382.2:p.Gly653Ser
ENST00000455383.6:c.1956_1957delinsCA (MSH6)	ENSP00000397484.2:p.Gly653Ser
ENST00000700004.2:c.2253_2254delinsCA (MSH6)	ENSP00000514752.2:p.Gly752Ser
ENST00000699999.1:n.2337_2338delinsCA (MSH6)
ENST00000700000.1:c.1606+647_1606+648delinsCA (MSH6)	ENSP00000514749.1:n.1606+647_1606+648delinsCA
ENST00000700002.1:c.2259_2260delinsCA (MSH6)	ENSP00000514750.1:p.Gly754Ser
ENST00000700003.1:c.628-3184_628-3183delinsCA (MSH6)	ENSP00000514751.1:n.628-3184_628-3183delinsCA
ENST00000700004.1:c.1410_1411delinsCA (MSH6)	ENSP00000514752.1:p.Gly471Ser
ENST00000234420.11:c.2253_2254delinsCA (MSH6) MANE Select	ENSP00000234420.5:p.Gly752Ser
ENST00000540021.6:c.1863_1864delinsCA (MSH6)	ENSP00000446475.1:p.Gly622Ser
ENST00000652107.1:c.1956_1957delinsCA (MSH6)	ENSP00000498629.1:p.Gly653Ser
ENST00000673637.1:c.1956_1957delinsCA (MSH6)	ENSP00000501310.1:p.Gly653Ser
ENST00000234420.9:c.2253_2254delinsCA (MSH6)	ENSP00000234420.4:p.Gly752Ser
ENST00000405808.5:c.169+7958_169+7959delinsTG (FBXO11)	ENSP00000385127.1:n.169+7958_169+7959delinsTG
ENST00000434234.5:c.*124+7757_*124+7758delinsTG (FBXO11)	ENSP00000402692.1:n.*124+7757_*124+7758delinsTG
ENST00000445503.5:c.*1600_*1601delinsCA (MSH6)	ENSP00000405294.1:n.*1600_*1601delinsCA
ENST00000538136.1:c.1347_1348delinsCA (MSH6)	ENSP00000438580.1:p.Gly450Ser
ENST00000540021.5:c.1863_1864delinsCA (MSH6)	ENSP00000446475.1:p.Gly622Ser
ENST00000614496.4:c.1347_1348delinsCA (MSH6)	ENSP00000477844.1:p.Gly450Ser
ENST00000616033.4:c.2250_2251delinsCA (MSH6)	ENSP00000480261.1:p.Gly751Ser
ENST00000622629.4:c.-844_-843delinsCA (MSH6)	ENSP00000482078.1:n.-844_-843delinsCA
NM_000179.2:c.2253_2254delinsCA , LRG_219t1:c.2253_2254delinsCA (MSH6)	NP_000170.1:p.Gly752Ser
NM_001281492.1:c.1863_1864delinsCA (MSH6)	NP_001268421.1:p.Gly622Ser
NM_001281493.1:c.1347_1348delinsCA (MSH6)	NP_001268422.1:p.Gly450Ser
NM_001281494.1:c.1347_1348delinsCA (MSH6)	NP_001268423.1:p.Gly450Ser
XM_005264271.1:c.1956_1957delinsCA (MSH6)	XP_005264328.1:p.Gly653Ser
XM_011532798.1:c.2070_2071delinsCA (MSH6)	XP_011531100.1:p.Gly691Ser
XM_011532799.1:c.1956_1957delinsCA (MSH6)	XP_011531101.1:p.Gly653Ser
XM_011532800.1:c.1956_1957delinsCA (MSH6)	XP_011531102.1:p.Gly653Ser
XM_024452819.1:c.2253_2254delinsCA (MSH6)	XP_024308587.1:p.Gly752Ser
XM_024452820.1:c.2070_2071delinsCA (MSH6)	XP_024308588.1:p.Gly691Ser
XM_024452821.1:c.1956_1957delinsCA (MSH6)	XP_024308589.1:p.Gly653Ser
XM_024452822.1:c.1347_1348delinsCA (MSH6)	XP_024308590.1:p.Gly450Ser
NM_000179.3:c.2253_2254delinsCA (MSH6) MANE Select	NP_000170.1:p.Gly752Ser
NM_001281492.2:c.1863_1864delinsCA (MSH6)	NP_001268421.1:p.Gly622Ser
NM_001281493.2:c.1347_1348delinsCA (MSH6)	NP_001268422.1:p.Gly450Ser
NM_001281494.2:c.1347_1348delinsCA (MSH6)	NP_001268423.1:p.Gly450Ser