Canonical Allele Identifier: CA2580067843

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1790571
• ClinVar RCV Id: RCV002430646

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800375_47800377del , CM000664.2:g.47800375_47800377del	GRCh38
NC_000002.11:g.48027514_48027516del , CM000664.1:g.48027514_48027516del	GRCh37
NC_000002.10:g.47881018_47881020del	NCBI36
NG_007111.1:g.22229_22231del , LRG_219:g.22229_22231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2095_2097del (MSH6)	ENSP00000406248.2:p.Leu699del
ENST00000420813.6:c.2095_2097del (MSH6)	ENSP00000390382.2:p.Leu699del
ENST00000455383.6:c.2095_2097del (MSH6)	ENSP00000397484.2:p.Leu699del
ENST00000700004.2:c.2392_2394del (MSH6)	ENSP00000514752.2:p.Leu798del
ENST00000699999.1:n.2476_2478del (MSH6)
ENST00000700000.1:c.1606+786_1606+788del (MSH6)	ENSP00000514749.1:n.1606+786_1606+788del
ENST00000700002.1:c.2398_2400del (MSH6)	ENSP00000514750.1:p.Leu800del
ENST00000700003.1:c.628-3045_628-3043del (MSH6)	ENSP00000514751.1:n.628-3045_628-3043del
ENST00000700004.1:c.1549_1551del (MSH6)	ENSP00000514752.1:p.Leu517del
ENST00000234420.11:c.2392_2394del (MSH6) MANE Select	ENSP00000234420.5:p.Leu798del
ENST00000540021.6:c.2002_2004del (MSH6)	ENSP00000446475.1:p.Leu668del
ENST00000652107.1:c.2095_2097del (MSH6)	ENSP00000498629.1:p.Leu699del
ENST00000673637.1:c.2095_2097del (MSH6)	ENSP00000501310.1:p.Leu699del
ENST00000234420.9:c.2392_2394del (MSH6)	ENSP00000234420.4:p.Leu798del
ENST00000405808.5:c.169+7819_169+7821del (FBXO11)	ENSP00000385127.1:n.169+7819_169+7821del
ENST00000434234.5:c.*124+7618_*124+7620del (FBXO11)	ENSP00000402692.1:n.*124+7618_*124+7620del
ENST00000445503.5:c.*1739_*1741del (MSH6)	ENSP00000405294.1:n.*1739_*1741del
ENST00000538136.1:c.1486_1488del (MSH6)	ENSP00000438580.1:p.Leu496del
ENST00000540021.5:c.2002_2004del (MSH6)	ENSP00000446475.1:p.Leu668del
ENST00000614496.4:c.1486_1488del (MSH6)	ENSP00000477844.1:p.Leu496del
ENST00000616033.4:c.2389_2391del (MSH6)	ENSP00000480261.1:p.Leu797del
ENST00000622629.4:c.-705_-703del (MSH6)	ENSP00000482078.1:n.-705_-703del
NM_000179.2:c.2392_2394del , LRG_219t1:c.2392_2394del (MSH6)	NP_000170.1:p.Leu798del
NM_001281492.1:c.2002_2004del (MSH6)	NP_001268421.1:p.Leu668del
NM_001281493.1:c.1486_1488del (MSH6)	NP_001268422.1:p.Leu496del
NM_001281494.1:c.1486_1488del (MSH6)	NP_001268423.1:p.Leu496del
XM_005264271.1:c.2095_2097del (MSH6)	XP_005264328.1:p.Leu699del
XM_011532798.1:c.2209_2211del (MSH6)	XP_011531100.1:p.Leu737del
XM_011532799.1:c.2095_2097del (MSH6)	XP_011531101.1:p.Leu699del
XM_011532800.1:c.2095_2097del (MSH6)	XP_011531102.1:p.Leu699del
XM_024452819.1:c.2392_2394del (MSH6)	XP_024308587.1:p.Leu798del
XM_024452820.1:c.2209_2211del (MSH6)	XP_024308588.1:p.Leu737del
XM_024452821.1:c.2095_2097del (MSH6)	XP_024308589.1:p.Leu699del
XM_024452822.1:c.1486_1488del (MSH6)	XP_024308590.1:p.Leu496del
NM_000179.3:c.2392_2394del (MSH6) MANE Select	NP_000170.1:p.Leu798del
NM_001281492.2:c.2002_2004del (MSH6)	NP_001268421.1:p.Leu668del
NM_001281493.2:c.1486_1488del (MSH6)	NP_001268422.1:p.Leu496del
NM_001281494.2:c.1486_1488del (MSH6)	NP_001268423.1:p.Leu496del