Canonical Allele Identifier: CA891843282

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 579167
• ClinVar RCV Id: RCV000702383
• dbSNP Id: rs1558393107
• MyVariant Identifiers: chr2:g.48033612_48033617del (hg19) ; chr2:g.47806473_47806478del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806473_47806478del , CM000664.2:g.47806473_47806478del	GRCh38
NC_000002.11:g.48033612_48033617del , CM000664.1:g.48033612_48033617del	GRCh37
NC_000002.10:g.47887116_47887121del	NCBI36
NG_007111.1:g.28327_28332del , LRG_219:g.28327_28332del
NG_008397.1:g.104202_104207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3526_3531del (MSH6)	ENSP00000406248.2:p.Cys1176_Glu1177del
ENST00000420813.6:c.3526_3531del (MSH6)	ENSP00000390382.2:p.Cys1176_Glu1177del
ENST00000455383.6:c.3526_3531del (MSH6)	ENSP00000397484.2:p.Cys1176_Glu1177del
ENST00000700004.2:c.3439_3444del (MSH6)	ENSP00000514752.2:p.Cys1147_Glu1148del
ENST00000699999.1:n.4497_4502del (MSH6)
ENST00000700000.1:c.2257_2262del (MSH6)	ENSP00000514749.1:p.Cys753_Glu754del
ENST00000700002.1:c.3829_3834del (MSH6)	ENSP00000514750.1:p.Cys1277_Glu1278del
ENST00000700003.1:c.1278_1283del (MSH6)	ENSP00000514751.1:n.1278_1283del
ENST00000700004.1:c.2596_2601del (MSH6)	ENSP00000514752.1:p.Cys866_Glu867del
ENST00000700005.1:n.2674_2679del (MSH6)
ENST00000700006.1:n.4981_4986del (MSH6)
ENST00000700007.1:n.2418_2423del (MSH6)
ENST00000700008.1:n.2085_2090del (MSH6)
ENST00000700009.1:n.2487_2492del (MSH6)
ENST00000700010.1:n.1232_1237del (MSH6)
ENST00000700011.1:n.3117_3122del (MSH6)
ENST00000682451.1:n.4274_4279del (FBXO11)
ENST00000684712.1:n.4536_4541del (FBXO11)
ENST00000234420.11:c.3823_3828del (MSH6) MANE Select	ENSP00000234420.5:p.Cys1275_Glu1276del
ENST00000540021.6:c.3433_3438del (MSH6)	ENSP00000446475.1:p.Cys1145_Glu1146del
ENST00000652107.1:c.3526_3531del (MSH6)	ENSP00000498629.1:p.Cys1176_Glu1177del
ENST00000673637.1:c.3526_3531del (MSH6)	ENSP00000501310.1:p.Cys1176_Glu1177del
ENST00000234420.9:c.3823_3828del (MSH6)	ENSP00000234420.4:p.Cys1275_Glu1276del
ENST00000405808.5:c.169+1721_169+1726del (FBXO11)	ENSP00000385127.1:n.169+1721_169+1726del
ENST00000434234.5:c.*124+1520_*124+1525del (FBXO11)	ENSP00000402692.1:n.*124+1520_*124+1525del
ENST00000445503.5:c.*3170_*3175del (MSH6)	ENSP00000405294.1:n.*3170_*3175del
ENST00000538136.1:c.2917_2922del (MSH6)	ENSP00000438580.1:p.Cys973_Glu974del
ENST00000540021.5:c.3433_3438del (MSH6)	ENSP00000446475.1:p.Cys1145_Glu1146del
ENST00000614496.4:c.2917_2922del (MSH6)	ENSP00000477844.1:p.Cys973_Glu974del
ENST00000622629.4:c.724_729del (MSH6)	ENSP00000482078.1:p.Cys242_Glu243del
NM_000179.2:c.3823_3828del , LRG_219t1:c.3823_3828del (MSH6)	NP_000170.1:p.Cys1275_Glu1276del
NM_001281492.1:c.3433_3438del (MSH6)	NP_001268421.1:p.Cys1145_Glu1146del
NM_001281493.1:c.2917_2922del (MSH6)	NP_001268422.1:p.Cys973_Glu974del
NM_001281494.1:c.2917_2922del (MSH6)	NP_001268423.1:p.Cys973_Glu974del
XM_005264271.1:c.3526_3531del (MSH6)	XP_005264328.1:p.Cys1176_Glu1177del
XM_011532798.1:c.3640_3645del (MSH6)	XP_011531100.1:p.Cys1214_Glu1215del
XM_011532799.1:c.3526_3531del (MSH6)	XP_011531101.1:p.Cys1176_Glu1177del
XM_011532800.1:c.3526_3531del (MSH6)	XP_011531102.1:p.Cys1176_Glu1177del
XM_024452819.1:c.3916_3921del (MSH6)	XP_024308587.1:p.Cys1306_Glu1307del
XM_024452820.1:c.3733_3738del (MSH6)	XP_024308588.1:p.Cys1245_Glu1246del
XM_024452821.1:c.3619_3624del (MSH6)	XP_024308589.1:p.Cys1207_Glu1208del
XM_024452822.1:c.3010_3015del (MSH6)	XP_024308590.1:p.Cys1004_Glu1005del
NM_000179.3:c.3823_3828del (MSH6) MANE Select	NP_000170.1:p.Cys1275_Glu1276del
NM_001281492.2:c.3433_3438del (MSH6)	NP_001268421.1:p.Cys1145_Glu1146del
NM_001281493.2:c.2917_2922del (MSH6)	NP_001268422.1:p.Cys973_Glu974del
NM_001281494.2:c.2917_2922del (MSH6)	NP_001268423.1:p.Cys973_Glu974del