Canonical Allele Identifier: CA16611023

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 410438
• ClinVar RCV Id: RCV000471797
• dbSNP Id: rs1064792972
• MyVariant Identifiers: chr2:g.48030585_48030599del (hg19) ; chr2:g.47803446_47803460del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803446_47803460del , CM000664.2:g.47803446_47803460del	GRCh38
NC_000002.11:g.48030585_48030599del , CM000664.1:g.48030585_48030599del	GRCh37
NC_000002.10:g.47884089_47884103del	NCBI36
NG_007111.1:g.25300_25314del , LRG_219:g.25300_25314del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.2902_2916del (MSH6)	ENSP00000406248.2:p.Ser968_Asp972del
ENST00000420813.6:c.2902_2916del (MSH6)	ENSP00000390382.2:p.Ser968_Asp972del
ENST00000455383.6:c.2902_2916del (MSH6)	ENSP00000397484.2:p.Ser968_Asp972del
ENST00000700004.2:c.3173-2172_3173-2158del (MSH6)	ENSP00000514752.2:n.3173-2172_3173-2158de...
ENST00000699999.1:n.3283_3297del (MSH6)
ENST00000700000.1:c.1633_1647del (MSH6)	ENSP00000514749.1:p.Ser545_Asp549del
ENST00000700002.1:c.3205_3219del (MSH6)	ENSP00000514750.1:p.Ser1069_Asp1073del
ENST00000700003.1:c.654_668del (MSH6)	ENSP00000514751.1:p.Ile218_Val222del
ENST00000700004.1:c.2330-2172_2330-2158del (MSH6)	ENSP00000514752.1:n.2330-2172_2330-2158de...
ENST00000700005.1:n.2050_2064del (MSH6)
ENST00000700006.1:n.2047_2061del (MSH6)
ENST00000700007.1:n.1204_1218del (MSH6)
ENST00000700008.1:n.778_792del (MSH6)
ENST00000700009.1:n.777_791del (MSH6)
ENST00000700010.1:n.608_622del (MSH6)
ENST00000700011.1:n.679_693del (MSH6)
ENST00000234420.11:c.3199_3213del (MSH6) MANE Select	ENSP00000234420.5:p.Ser1067_Asp1071del
ENST00000540021.6:c.2809_2823del (MSH6)	ENSP00000446475.1:p.Ser937_Asp941del
ENST00000652107.1:c.2902_2916del (MSH6)	ENSP00000498629.1:p.Ser968_Asp972del
ENST00000673637.1:c.2902_2916del (MSH6)	ENSP00000501310.1:p.Ser968_Asp972del
ENST00000234420.9:c.3199_3213del (MSH6)	ENSP00000234420.4:p.Ser1067_Asp1071del
ENST00000405808.5:c.169+4737_169+4751del (FBXO11)	ENSP00000385127.1:n.169+4737_169+4751del
ENST00000434234.5:c.*124+4536_*124+4550del (FBXO11)	ENSP00000402692.1:n.*124+4536_*124+4550de...
ENST00000445503.5:c.*2546_*2560del (MSH6)	ENSP00000405294.1:n.*2546_*2560del
ENST00000538136.1:c.2293_2307del (MSH6)	ENSP00000438580.1:p.Ser765_Asp769del
ENST00000540021.5:c.2809_2823del (MSH6)	ENSP00000446475.1:p.Ser937_Asp941del
ENST00000614496.4:c.2293_2307del (MSH6)	ENSP00000477844.1:p.Ser765_Asp769del
ENST00000622629.4:c.103_117del (MSH6)	ENSP00000482078.1:p.Ser35_Asp39del
NM_000179.2:c.3199_3213del , LRG_219t1:c.3199_3213del (MSH6)	NP_000170.1:p.Ser1067_Asp1071del
NM_001281492.1:c.2809_2823del (MSH6)	NP_001268421.1:p.Ser937_Asp941del
NM_001281493.1:c.2293_2307del (MSH6)	NP_001268422.1:p.Ser765_Asp769del
NM_001281494.1:c.2293_2307del (MSH6)	NP_001268423.1:p.Ser765_Asp769del
XM_005264271.1:c.2902_2916del (MSH6)	XP_005264328.1:p.Ser968_Asp972del
XM_011532798.1:c.3016_3030del (MSH6)	XP_011531100.1:p.Ser1006_Asp1010del
XM_011532799.1:c.2902_2916del (MSH6)	XP_011531101.1:p.Ser968_Asp972del
XM_011532800.1:c.2902_2916del (MSH6)	XP_011531102.1:p.Ser968_Asp972del
XM_024452819.1:c.3199_3213del (MSH6)	XP_024308587.1:p.Ser1067_Asp1071del
XM_024452820.1:c.3016_3030del (MSH6)	XP_024308588.1:p.Ser1006_Asp1010del
XM_024452821.1:c.2902_2916del (MSH6)	XP_024308589.1:p.Ser968_Asp972del
XM_024452822.1:c.2293_2307del (MSH6)	XP_024308590.1:p.Ser765_Asp769del
NM_000179.3:c.3199_3213del (MSH6) MANE Select	NP_000170.1:p.Ser1067_Asp1071del
NM_001281492.2:c.2809_2823del (MSH6)	NP_001268421.1:p.Ser937_Asp941del
NM_001281493.2:c.2293_2307del (MSH6)	NP_001268422.1:p.Ser765_Asp769del
NM_001281494.2:c.2293_2307del (MSH6)	NP_001268423.1:p.Ser765_Asp769del