Canonical Allele Identifier: CA10582089

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 237197
• ClinVar RCV Id: RCV000232565 ; RCV000478739 ; RCV000564937 ; RCV001818564
• dbSNP Id: rs878853738
• MyVariant Identifiers: chr2:g.48033458_48033459delinsTT (hg19) ; chr2:g.47806319_47806320delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806319_47806320delinsTT , CM000664.2:g.47806319_47806320delinsTT	GRCh38
NC_000002.11:g.48033458_48033459delinsTT , CM000664.1:g.48033458_48033459delinsTT	GRCh37
NC_000002.10:g.47886962_47886963delinsTT	NCBI36
NG_007111.1:g.28173_28174delinsTT , LRG_219:g.28173_28174delinsTT
NG_008397.1:g.104356_104357delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3465_3466delinsTT (MSH6)	ENSP00000406248.2:p.Glu1155_Asp1156delinsAspTyr
ENST00000420813.6:c.3465_3466delinsTT (MSH6)	ENSP00000390382.2:p.Glu1155_Asp1156delinsAspTyr
ENST00000455383.6:c.3465_3466delinsTT (MSH6)	ENSP00000397484.2:p.Glu1155_Asp1156delinsAspTyr
ENST00000700004.2:c.3378_3379delinsTT (MSH6)	ENSP00000514752.2:p.Glu1126_Asp1127delinsAspTyr
ENST00000699999.1:n.4436_4437delinsTT (MSH6)
ENST00000700000.1:c.2196_2197delinsTT (MSH6)	ENSP00000514749.1:p.Glu732_Asp733delinsAspTyr
ENST00000700002.1:c.3768_3769delinsTT (MSH6)	ENSP00000514750.1:p.Glu1256_Asp1257delinsAspTyr
ENST00000700003.1:c.1217_1218delinsTT (MSH6)	ENSP00000514751.1:n.1217_1218delinsTT
ENST00000700004.1:c.2535_2536delinsTT (MSH6)	ENSP00000514752.1:p.Glu845_Asp846delinsAspTyr
ENST00000700005.1:n.2613_2614delinsTT (MSH6)
ENST00000700006.1:n.4920_4921delinsTT (MSH6)
ENST00000700007.1:n.2357_2358delinsTT (MSH6)
ENST00000700008.1:n.1931_1932delinsTT (MSH6)
ENST00000700009.1:n.2426_2427delinsTT (MSH6)
ENST00000700010.1:n.1171_1172delinsTT (MSH6)
ENST00000700011.1:n.3056_3057delinsTT (MSH6)
ENST00000682451.1:n.4428_4429delinsAA (FBXO11)
ENST00000684712.1:n.4690_4691delinsAA (FBXO11)
ENST00000234420.11:c.3762_3763delinsTT (MSH6) MANE Select	ENSP00000234420.5:p.Glu1254_Asp1255delinsAspTyr
ENST00000540021.6:c.3372_3373delinsTT (MSH6)	ENSP00000446475.1:p.Glu1124_Asp1125delinsAspTyr
ENST00000652107.1:c.3465_3466delinsTT (MSH6)	ENSP00000498629.1:p.Glu1155_Asp1156delinsAspTyr
ENST00000673637.1:c.3465_3466delinsTT (MSH6)	ENSP00000501310.1:p.Glu1155_Asp1156delinsAspTyr
ENST00000234420.9:c.3762_3763delinsTT (MSH6)	ENSP00000234420.4:p.Glu1254_Asp1255delinsAspTyr
ENST00000405808.5:c.169+1875_169+1876delinsAA (FBXO11)	ENSP00000385127.1:n.169+1875_169+1876delinsAA
ENST00000434234.5:c.*124+1674_*124+1675delinsAA (FBXO11)	ENSP00000402692.1:n.*124+1674_*124+1675delinsAA
ENST00000445503.5:c.*3109_*3110delinsTT (MSH6)	ENSP00000405294.1:n.*3109_*3110delinsTT
ENST00000538136.1:c.2856_2857delinsTT (MSH6)	ENSP00000438580.1:p.Glu952_Asp953delinsAspTyr
ENST00000540021.5:c.3372_3373delinsTT (MSH6)	ENSP00000446475.1:p.Glu1124_Asp1125delinsAspTyr
ENST00000614496.4:c.2856_2857delinsTT (MSH6)	ENSP00000477844.1:p.Glu952_Asp953delinsAspTyr
ENST00000622629.4:c.664_665delinsTT (MSH6)	ENSP00000482078.1:p.Arg222Leu
NM_000179.2:c.3762_3763delinsTT , LRG_219t1:c.3762_3763delinsTT (MSH6)	NP_000170.1:p.Glu1254_Asp1255delinsAspTyr
NM_001281492.1:c.3372_3373delinsTT (MSH6)	NP_001268421.1:p.Glu1124_Asp1125delinsAspTyr
NM_001281493.1:c.2856_2857delinsTT (MSH6)	NP_001268422.1:p.Glu952_Asp953delinsAspTyr
NM_001281494.1:c.2856_2857delinsTT (MSH6)	NP_001268423.1:p.Glu952_Asp953delinsAspTyr
XM_005264271.1:c.3465_3466delinsTT (MSH6)	XP_005264328.1:p.Glu1155_Asp1156delinsAspTyr
XM_011532798.1:c.3579_3580delinsTT (MSH6)	XP_011531100.1:p.Glu1193_Asp1194delinsAspTyr
XM_011532799.1:c.3465_3466delinsTT (MSH6)	XP_011531101.1:p.Glu1155_Asp1156delinsAspTyr
XM_011532800.1:c.3465_3466delinsTT (MSH6)	XP_011531102.1:p.Glu1155_Asp1156delinsAspTyr
XM_024452819.1:c.3762_3763delinsTT (MSH6)	XP_024308587.1:p.Glu1254_Asp1255delinsAspTyr
XM_024452820.1:c.3579_3580delinsTT (MSH6)	XP_024308588.1:p.Glu1193_Asp1194delinsAspTyr
XM_024452821.1:c.3465_3466delinsTT (MSH6)	XP_024308589.1:p.Glu1155_Asp1156delinsAspTyr
XM_024452822.1:c.2856_2857delinsTT (MSH6)	XP_024308590.1:p.Glu952_Asp953delinsAspTyr
NM_000179.3:c.3762_3763delinsTT (MSH6) MANE Select	NP_000170.1:p.Glu1254_Asp1255delinsAspTyr
NM_001281492.2:c.3372_3373delinsTT (MSH6)	NP_001268421.1:p.Glu1124_Asp1125delinsAspTyr
NM_001281493.2:c.2856_2857delinsTT (MSH6)	NP_001268422.1:p.Glu952_Asp953delinsAspTyr
NM_001281494.2:c.2856_2857delinsTT (MSH6)	NP_001268423.1:p.Glu952_Asp953delinsAspTyr