Canonical Allele Identifier: CA2697548132

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2682018
• ClinVar RCV Id: RCV003477310

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799295_47799364del , CM000664.2:g.47799295_47799364del	GRCh38
NC_000002.11:g.48026434_48026503del , CM000664.1:g.48026434_48026503del	GRCh37
NC_000002.10:g.47879938_47880007del	NCBI36
NG_007111.1:g.21149_21218del , LRG_219:g.21149_21218del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.1015_1084del (MSH6)	ENSP00000406248.2:p.Met339PhefsTer20
ENST00000420813.6:c.1015_1084del (MSH6)	ENSP00000390382.2:p.Met339PhefsTer20
ENST00000455383.6:c.1015_1084del (MSH6)	ENSP00000397484.2:p.Met339PhefsTer20
ENST00000700004.2:c.1312_1381del (MSH6)	ENSP00000514752.2:p.Met438PhefsTer20
ENST00000699999.1:n.1396_1465del (MSH6)
ENST00000700000.1:c.1312_1381del (MSH6)	ENSP00000514749.1:p.Met438PhefsTer20
ENST00000700002.1:c.1318_1387del (MSH6)	ENSP00000514750.1:p.Met440PhefsTer20
ENST00000700003.1:c.627+3232_627+3301del (MSH6)	ENSP00000514751.1:n.627+3232_627+3301del
ENST00000700004.1:c.469_538del (MSH6)	ENSP00000514752.1:p.Met157PhefsTer20
ENST00000234420.11:c.1312_1381del (MSH6) MANE Select	ENSP00000234420.5:p.Met438PhefsTer20
ENST00000540021.6:c.922_991del (MSH6)	ENSP00000446475.1:p.Met308PhefsTer20
ENST00000652107.1:c.1015_1084del (MSH6)	ENSP00000498629.1:p.Met339PhefsTer20
ENST00000673637.1:c.1015_1084del (MSH6)	ENSP00000501310.1:p.Met339PhefsTer20
ENST00000234420.9:c.1312_1381del (MSH6)	ENSP00000234420.4:p.Met438PhefsTer20
ENST00000405808.5:c.169+8831_169+8900del (FBXO11)	ENSP00000385127.1:n.169+8831_169+8900del
ENST00000434234.5:c.*124+8630_*124+8699del (FBXO11)	ENSP00000402692.1:n.*124+8630_*124+8699de...
ENST00000445503.5:c.*659_*728del (MSH6)	ENSP00000405294.1:n.*659_*728del
ENST00000538136.1:c.406_475del (MSH6)	ENSP00000438580.1:p.Met136PhefsTer20
ENST00000540021.5:c.922_991del (MSH6)	ENSP00000446475.1:p.Met308PhefsTer20
ENST00000614496.4:c.406_475del (MSH6)	ENSP00000477844.1:p.Met136PhefsTer20
ENST00000616033.4:c.1309_1378del (MSH6)	ENSP00000480261.1:p.Met437PhefsTer20
ENST00000622629.4:c.-1785_-1716del (MSH6)	ENSP00000482078.1:n.-1785_-1716del
NM_000179.2:c.1312_1381del , LRG_219t1:c.1312_1381del (MSH6)	NP_000170.1:p.Met438PhefsTer20
NM_001281492.1:c.922_991del (MSH6)	NP_001268421.1:p.Met308PhefsTer20
NM_001281493.1:c.406_475del (MSH6)	NP_001268422.1:p.Met136PhefsTer20
NM_001281494.1:c.406_475del (MSH6)	NP_001268423.1:p.Met136PhefsTer20
XM_005264271.1:c.1015_1084del (MSH6)	XP_005264328.1:p.Met339PhefsTer20
XM_011532798.1:c.1129_1198del (MSH6)	XP_011531100.1:p.Met377PhefsTer20
XM_011532799.1:c.1015_1084del (MSH6)	XP_011531101.1:p.Met339PhefsTer20
XM_011532800.1:c.1015_1084del (MSH6)	XP_011531102.1:p.Met339PhefsTer20
XM_024452819.1:c.1312_1381del (MSH6)	XP_024308587.1:p.Met438PhefsTer20
XM_024452820.1:c.1129_1198del (MSH6)	XP_024308588.1:p.Met377PhefsTer20
XM_024452821.1:c.1015_1084del (MSH6)	XP_024308589.1:p.Met339PhefsTer20
XM_024452822.1:c.406_475del (MSH6)	XP_024308590.1:p.Met136PhefsTer20
NM_000179.3:c.1312_1381del (MSH6) MANE Select	NP_000170.1:p.Met438PhefsTer20
NM_001281492.2:c.922_991del (MSH6)	NP_001268421.1:p.Met308PhefsTer20
NM_001281493.2:c.406_475del (MSH6)	NP_001268422.1:p.Met136PhefsTer20
NM_001281494.2:c.406_475del (MSH6)	NP_001268423.1:p.Met136PhefsTer20