Canonical Allele Identifier: CA2658967022

Gene: MSH6 FBXO11

Linked Data

• gnomAD v4: 2-47805703-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805705del , CM000664.2:g.47805705del	GRCh38
NC_000002.11:g.48032844del , CM000664.1:g.48032844del	GRCh37
NC_000002.10:g.47886348del	NCBI36
NG_007111.1:g.27559del , LRG_219:g.27559del
NG_008397.1:g.104972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3347del (MSH6)	ENSP00000406248.2:p.Leu1116Ter
ENST00000420813.6:c.3347del (MSH6)	ENSP00000390382.2:p.Leu1116Ter
ENST00000455383.6:c.3347del (MSH6)	ENSP00000397484.2:p.Leu1116Ter
ENST00000700004.2:c.3260del (MSH6)	ENSP00000514752.2:p.Leu1087Ter
ENST00000699999.1:n.4318del (MSH6)
ENST00000700000.1:c.2078del (MSH6)	ENSP00000514749.1:p.Leu693Ter
ENST00000700002.1:c.3650del (MSH6)	ENSP00000514750.1:p.Leu1217Ter
ENST00000700003.1:c.1099del (MSH6)	ENSP00000514751.1:n.1099del
ENST00000700004.1:c.2417del (MSH6)	ENSP00000514752.1:p.Leu806Ter
ENST00000700005.1:n.2495del (MSH6)
ENST00000700006.1:n.4306del (MSH6)
ENST00000700007.1:n.2239del (MSH6)
ENST00000700008.1:n.1813del (MSH6)
ENST00000700009.1:n.1812del (MSH6)
ENST00000700010.1:n.1053del (MSH6)
ENST00000700011.1:n.2938del (MSH6)
ENST00000234420.11:c.3644del (MSH6) MANE Select	ENSP00000234420.5:p.Leu1215Ter
ENST00000540021.6:c.3254del (MSH6)	ENSP00000446475.1:p.Leu1085Ter
ENST00000652107.1:c.3347del (MSH6)	ENSP00000498629.1:p.Leu1116Ter
ENST00000673637.1:c.3347del (MSH6)	ENSP00000501310.1:p.Leu1116Ter
ENST00000234420.9:c.3644del (MSH6)	ENSP00000234420.4:p.Leu1215Ter
ENST00000405808.5:c.169+2491del (FBXO11)	ENSP00000385127.1:n.169+2491del
ENST00000434234.5:c.*124+2290del (FBXO11)	ENSP00000402692.1:n.*124+2290del
ENST00000445503.5:c.*2991del (MSH6)	ENSP00000405294.1:n.*2991del
ENST00000538136.1:c.2738del (MSH6)	ENSP00000438580.1:p.Leu913Ter
ENST00000540021.5:c.3254del (MSH6)	ENSP00000446475.1:p.Leu1085Ter
ENST00000614496.4:c.2738del (MSH6)	ENSP00000477844.1:p.Leu913Ter
ENST00000622629.4:c.548del (MSH6)	ENSP00000482078.1:p.Leu183Ter
NM_000179.2:c.3644del , LRG_219t1:c.3644del (MSH6)	NP_000170.1:p.Leu1215Ter
NM_001281492.1:c.3254del (MSH6)	NP_001268421.1:p.Leu1085Ter
NM_001281493.1:c.2738del (MSH6)	NP_001268422.1:p.Leu913Ter
NM_001281494.1:c.2738del (MSH6)	NP_001268423.1:p.Leu913Ter
XM_005264271.1:c.3347del (MSH6)	XP_005264328.1:p.Leu1116Ter
XM_011532798.1:c.3461del (MSH6)	XP_011531100.1:p.Leu1154Ter
XM_011532799.1:c.3347del (MSH6)	XP_011531101.1:p.Leu1116Ter
XM_011532800.1:c.3347del (MSH6)	XP_011531102.1:p.Leu1116Ter
XM_024452819.1:c.3644del (MSH6)	XP_024308587.1:p.Leu1215Ter
XM_024452820.1:c.3461del (MSH6)	XP_024308588.1:p.Leu1154Ter
XM_024452821.1:c.3347del (MSH6)	XP_024308589.1:p.Leu1116Ter
XM_024452822.1:c.2738del (MSH6)	XP_024308590.1:p.Leu913Ter
NM_000179.3:c.3644del (MSH6) MANE Select	NP_000170.1:p.Leu1215Ter
NM_001281492.2:c.3254del (MSH6)	NP_001268421.1:p.Leu1085Ter
NM_001281493.2:c.2738del (MSH6)	NP_001268422.1:p.Leu913Ter
NM_001281494.2:c.2738del (MSH6)	NP_001268423.1:p.Leu913Ter