Canonical Allele Identifier: CA2496052963

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1006973
• ClinVar RCV Id: RCV001304095
• dbSNP Id: rs1669881014

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805023_47805025del , CM000664.2:g.47805023_47805025del	GRCh38
NC_000002.11:g.48032162_48032164del , CM000664.1:g.48032162_48032164del	GRCh37
NC_000002.10:g.47885666_47885668del	NCBI36
NG_007111.1:g.26877_26879del , LRG_219:g.26877_26879del
NG_008397.1:g.105651_105653del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3255_3257del (MSH6)	ENSP00000406248.2:p.Met1085_Ser1086delinsIle
ENST00000420813.6:c.3255_3257del (MSH6)	ENSP00000390382.2:p.Met1085_Ser1086delinsIle
ENST00000455383.6:c.3255_3257del (MSH6)	ENSP00000397484.2:p.Met1085_Ser1086delinsIle
ENST00000700004.2:c.3173-595_3173-593del (MSH6)	ENSP00000514752.2:n.3173-595_3173-593del
ENST00000699999.1:n.3636_3638del (MSH6)
ENST00000700000.1:c.1986_1988del (MSH6)	ENSP00000514749.1:p.Met662_Ser663delinsIle
ENST00000700002.1:c.3558_3560del (MSH6)	ENSP00000514750.1:p.Met1186_Ser1187delinsIle
ENST00000700003.1:c.1007_1009del (MSH6)	ENSP00000514751.1:n.1007_1009del
ENST00000700004.1:c.2330-595_2330-593del (MSH6)	ENSP00000514752.1:n.2330-595_2330-593del
ENST00000700005.1:n.2403_2405del (MSH6)
ENST00000700006.1:n.3624_3626del (MSH6)
ENST00000700007.1:n.1557_1559del (MSH6)
ENST00000700008.1:n.1131_1133del (MSH6)
ENST00000700009.1:n.1130_1132del (MSH6)
ENST00000700010.1:n.961_963del (MSH6)
ENST00000700011.1:n.2256_2258del (MSH6)
ENST00000234420.11:c.3552_3554del (MSH6) MANE Select	ENSP00000234420.5:p.Met1184_Ser1185delinsIle
ENST00000540021.6:c.3162_3164del (MSH6)	ENSP00000446475.1:p.Met1054_Ser1055delinsIle
ENST00000652107.1:c.3255_3257del (MSH6)	ENSP00000498629.1:p.Met1085_Ser1086delinsIle
ENST00000673637.1:c.3255_3257del (MSH6)	ENSP00000501310.1:p.Met1085_Ser1086delinsIle
ENST00000234420.9:c.3552_3554del (MSH6)	ENSP00000234420.4:p.Met1184_Ser1185delinsIle
ENST00000405808.5:c.169+3170_169+3172del (FBXO11)	ENSP00000385127.1:n.169+3170_169+3172del
ENST00000434234.5:c.*124+2969_*124+2971del (FBXO11)	ENSP00000402692.1:n.*124+2969_*124+2971del
ENST00000445503.5:c.*2899_*2901del (MSH6)	ENSP00000405294.1:n.*2899_*2901del
ENST00000538136.1:c.2646_2648del (MSH6)	ENSP00000438580.1:p.Met882_Ser883delinsIle
ENST00000540021.5:c.3162_3164del (MSH6)	ENSP00000446475.1:p.Met1054_Ser1055delinsIle
ENST00000614496.4:c.2646_2648del (MSH6)	ENSP00000477844.1:p.Met882_Ser883delinsIle
ENST00000622629.4:c.456_458del (MSH6)	ENSP00000482078.1:p.Met152_Ser153delinsIle
NM_000179.2:c.3552_3554del , LRG_219t1:c.3552_3554del (MSH6)	NP_000170.1:p.Met1184_Ser1185delinsIle
NM_001281492.1:c.3162_3164del (MSH6)	NP_001268421.1:p.Met1054_Ser1055delinsIle
NM_001281493.1:c.2646_2648del (MSH6)	NP_001268422.1:p.Met882_Ser883delinsIle
NM_001281494.1:c.2646_2648del (MSH6)	NP_001268423.1:p.Met882_Ser883delinsIle
XM_005264271.1:c.3255_3257del (MSH6)	XP_005264328.1:p.Met1085_Ser1086delinsIle
XM_011532798.1:c.3369_3371del (MSH6)	XP_011531100.1:p.Met1123_Ser1124delinsIle
XM_011532799.1:c.3255_3257del (MSH6)	XP_011531101.1:p.Met1085_Ser1086delinsIle
XM_011532800.1:c.3255_3257del (MSH6)	XP_011531102.1:p.Met1085_Ser1086delinsIle
XM_024452819.1:c.3552_3554del (MSH6)	XP_024308587.1:p.Met1184_Ser1185delinsIle
XM_024452820.1:c.3369_3371del (MSH6)	XP_024308588.1:p.Met1123_Ser1124delinsIle
XM_024452821.1:c.3255_3257del (MSH6)	XP_024308589.1:p.Met1085_Ser1086delinsIle
XM_024452822.1:c.2646_2648del (MSH6)	XP_024308590.1:p.Met882_Ser883delinsIle
NM_000179.3:c.3552_3554del (MSH6) MANE Select	NP_000170.1:p.Met1184_Ser1185delinsIle
NM_001281492.2:c.3162_3164del (MSH6)	NP_001268421.1:p.Met1054_Ser1055delinsIle
NM_001281493.2:c.2646_2648del (MSH6)	NP_001268422.1:p.Met882_Ser883delinsIle
NM_001281494.2:c.2646_2648del (MSH6)	NP_001268423.1:p.Met882_Ser883delinsIle