Canonical Allele Identifier: CA2697548119

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2742103
• ClinVar RCV Id: RCV003593524

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800251_47800257del , CM000664.2:g.47800251_47800257del	GRCh38
NC_000002.11:g.48027390_48027396del , CM000664.1:g.48027390_48027396del	GRCh37
NC_000002.10:g.47880894_47880900del	NCBI36
NG_007111.1:g.22105_22111del , LRG_219:g.22105_22111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1971_1977del (MSH6)	ENSP00000406248.2:p.Thr658Ter
ENST00000420813.6:c.1971_1977del (MSH6)	ENSP00000390382.2:p.Thr658Ter
ENST00000455383.6:c.1971_1977del (MSH6)	ENSP00000397484.2:p.Thr658Ter
ENST00000700004.2:c.2268_2274del (MSH6)	ENSP00000514752.2:p.Thr757Ter
ENST00000699999.1:n.2352_2358del (MSH6)
ENST00000700000.1:c.1606+662_1606+668del (MSH6)	ENSP00000514749.1:n.1606+662_1606+668del
ENST00000700002.1:c.2274_2280del (MSH6)	ENSP00000514750.1:p.Thr759Ter
ENST00000700003.1:c.628-3169_628-3163del (MSH6)	ENSP00000514751.1:n.628-3169_628-3163del
ENST00000700004.1:c.1425_1431del (MSH6)	ENSP00000514752.1:p.Thr476Ter
ENST00000234420.11:c.2268_2274del (MSH6) MANE Select	ENSP00000234420.5:p.Thr757Ter
ENST00000540021.6:c.1878_1884del (MSH6)	ENSP00000446475.1:p.Thr627Ter
ENST00000652107.1:c.1971_1977del (MSH6)	ENSP00000498629.1:p.Thr658Ter
ENST00000673637.1:c.1971_1977del (MSH6)	ENSP00000501310.1:p.Thr658Ter
ENST00000234420.9:c.2268_2274del (MSH6)	ENSP00000234420.4:p.Thr757Ter
ENST00000405808.5:c.169+7938_169+7944del (FBXO11)	ENSP00000385127.1:n.169+7938_169+7944del
ENST00000434234.5:c.*124+7737_*124+7743del (FBXO11)	ENSP00000402692.1:n.*124+7737_*124+7743del
ENST00000445503.5:c.*1615_*1621del (MSH6)	ENSP00000405294.1:n.*1615_*1621del
ENST00000538136.1:c.1362_1368del (MSH6)	ENSP00000438580.1:p.Thr455Ter
ENST00000540021.5:c.1878_1884del (MSH6)	ENSP00000446475.1:p.Thr627Ter
ENST00000614496.4:c.1362_1368del (MSH6)	ENSP00000477844.1:p.Thr455Ter
ENST00000616033.4:c.2265_2271del (MSH6)	ENSP00000480261.1:p.Thr756Ter
ENST00000622629.4:c.-829_-823del (MSH6)	ENSP00000482078.1:n.-829_-823del
NM_000179.2:c.2268_2274del , LRG_219t1:c.2268_2274del (MSH6)	NP_000170.1:p.Thr757Ter
NM_001281492.1:c.1878_1884del (MSH6)	NP_001268421.1:p.Thr627Ter
NM_001281493.1:c.1362_1368del (MSH6)	NP_001268422.1:p.Thr455Ter
NM_001281494.1:c.1362_1368del (MSH6)	NP_001268423.1:p.Thr455Ter
XM_005264271.1:c.1971_1977del (MSH6)	XP_005264328.1:p.Thr658Ter
XM_011532798.1:c.2085_2091del (MSH6)	XP_011531100.1:p.Thr696Ter
XM_011532799.1:c.1971_1977del (MSH6)	XP_011531101.1:p.Thr658Ter
XM_011532800.1:c.1971_1977del (MSH6)	XP_011531102.1:p.Thr658Ter
XM_024452819.1:c.2268_2274del (MSH6)	XP_024308587.1:p.Thr757Ter
XM_024452820.1:c.2085_2091del (MSH6)	XP_024308588.1:p.Thr696Ter
XM_024452821.1:c.1971_1977del (MSH6)	XP_024308589.1:p.Thr658Ter
XM_024452822.1:c.1362_1368del (MSH6)	XP_024308590.1:p.Thr455Ter
NM_000179.3:c.2268_2274del (MSH6) MANE Select	NP_000170.1:p.Thr757Ter
NM_001281492.2:c.1878_1884del (MSH6)	NP_001268421.1:p.Thr627Ter
NM_001281493.2:c.1362_1368del (MSH6)	NP_001268422.1:p.Thr455Ter
NM_001281494.2:c.1362_1368del (MSH6)	NP_001268423.1:p.Thr455Ter