Canonical Allele Identifier: CA658795747

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 525635
• ClinVar RCV Id: RCV000629763 ; RCV003451484
• dbSNP Id: rs1553332312
• MyVariant Identifiers: chr2:g.48032165_48032166del (hg19) ; chr2:g.47805026_47805027del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805026_47805027del , CM000664.2:g.47805026_47805027del	GRCh38
NC_000002.11:g.48032165_48032166del , CM000664.1:g.48032165_48032166del	GRCh37
NC_000002.10:g.47885669_47885670del	NCBI36
NG_007111.1:g.26880_26881del , LRG_219:g.26880_26881del
NG_008397.1:g.105649_105650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3258_3259del (MSH6)	ENSP00000406248.2:p.Gly1087Ter
ENST00000420813.6:c.3258_3259del (MSH6)	ENSP00000390382.2:p.Gly1087Ter
ENST00000455383.6:c.3258_3259del (MSH6)	ENSP00000397484.2:p.Gly1087Ter
ENST00000700004.2:c.3173-592_3173-591del (MSH6)	ENSP00000514752.2:n.3173-592_3173-591del
ENST00000699999.1:n.3639_3640del (MSH6)
ENST00000700000.1:c.1989_1990del (MSH6)	ENSP00000514749.1:p.Gly664Ter
ENST00000700002.1:c.3561_3562del (MSH6)	ENSP00000514750.1:p.Gly1188Ter
ENST00000700003.1:c.1010_1011del (MSH6)	ENSP00000514751.1:n.1010_1011del
ENST00000700004.1:c.2330-592_2330-591del (MSH6)	ENSP00000514752.1:n.2330-592_2330-591del
ENST00000700005.1:n.2406_2407del (MSH6)
ENST00000700006.1:n.3627_3628del (MSH6)
ENST00000700007.1:n.1560_1561del (MSH6)
ENST00000700008.1:n.1134_1135del (MSH6)
ENST00000700009.1:n.1133_1134del (MSH6)
ENST00000700010.1:n.964_965del (MSH6)
ENST00000700011.1:n.2259_2260del (MSH6)
ENST00000234420.11:c.3555_3556del (MSH6) MANE Select	ENSP00000234420.5:p.Gly1186Ter
ENST00000540021.6:c.3165_3166del (MSH6)	ENSP00000446475.1:p.Gly1056Ter
ENST00000652107.1:c.3258_3259del (MSH6)	ENSP00000498629.1:p.Gly1087Ter
ENST00000673637.1:c.3258_3259del (MSH6)	ENSP00000501310.1:p.Gly1087Ter
ENST00000234420.9:c.3555_3556del (MSH6)	ENSP00000234420.4:p.Gly1186Ter
ENST00000405808.5:c.169+3168_169+3169del (FBXO11)	ENSP00000385127.1:n.169+3168_169+3169del
ENST00000434234.5:c.*124+2967_*124+2968del (FBXO11)	ENSP00000402692.1:n.*124+2967_*124+2968del
ENST00000445503.5:c.*2902_*2903del (MSH6)	ENSP00000405294.1:n.*2902_*2903del
ENST00000538136.1:c.2649_2650del (MSH6)	ENSP00000438580.1:p.Gly884Ter
ENST00000540021.5:c.3165_3166del (MSH6)	ENSP00000446475.1:p.Gly1056Ter
ENST00000614496.4:c.2649_2650del (MSH6)	ENSP00000477844.1:p.Gly884Ter
ENST00000622629.4:c.459_460del (MSH6)	ENSP00000482078.1:p.Gly154Ter
NM_000179.2:c.3555_3556del , LRG_219t1:c.3555_3556del (MSH6)	NP_000170.1:p.Gly1186Ter
NM_001281492.1:c.3165_3166del (MSH6)	NP_001268421.1:p.Gly1056Ter
NM_001281493.1:c.2649_2650del (MSH6)	NP_001268422.1:p.Gly884Ter
NM_001281494.1:c.2649_2650del (MSH6)	NP_001268423.1:p.Gly884Ter
XM_005264271.1:c.3258_3259del (MSH6)	XP_005264328.1:p.Gly1087Ter
XM_011532798.1:c.3372_3373del (MSH6)	XP_011531100.1:p.Gly1125Ter
XM_011532799.1:c.3258_3259del (MSH6)	XP_011531101.1:p.Gly1087Ter
XM_011532800.1:c.3258_3259del (MSH6)	XP_011531102.1:p.Gly1087Ter
XM_024452819.1:c.3555_3556del (MSH6)	XP_024308587.1:p.Gly1186Ter
XM_024452820.1:c.3372_3373del (MSH6)	XP_024308588.1:p.Gly1125Ter
XM_024452821.1:c.3258_3259del (MSH6)	XP_024308589.1:p.Gly1087Ter
XM_024452822.1:c.2649_2650del (MSH6)	XP_024308590.1:p.Gly884Ter
NM_000179.3:c.3555_3556del (MSH6) MANE Select	NP_000170.1:p.Gly1186Ter
NM_001281492.2:c.3165_3166del (MSH6)	NP_001268421.1:p.Gly1056Ter
NM_001281493.2:c.2649_2650del (MSH6)	NP_001268422.1:p.Gly884Ter
NM_001281494.2:c.2649_2650del (MSH6)	NP_001268423.1:p.Gly884Ter