Canonical Allele Identifier: CA279747

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 218062
• ClinVar RCV Id: RCV000202131 ; RCV000233857 ; RCV000491652 ; RCV001194361
• dbSNP Id: rs863225408
• gnomAD v4: 2-47804997-AGACTT-A
• MyVariant Identifiers: chr2:g.48032138_48032142del (hg19) ; chr2:g.47804999_47805003del (hg38)
• PubMed: PMID:20028993

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804999_47805003del , CM000664.2:g.47804999_47805003del	GRCh38
NC_000002.11:g.48032138_48032142del , CM000664.1:g.48032138_48032142del	GRCh37
NC_000002.10:g.47885642_47885646del	NCBI36
NG_007111.1:g.26853_26857del , LRG_219:g.26853_26857del
NG_008397.1:g.105674_105678del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3231_3235del (MSH6)	ENSP00000406248.2:p.Leu1078CysfsTer9
ENST00000420813.6:c.3231_3235del (MSH6)	ENSP00000390382.2:p.Leu1078CysfsTer9
ENST00000455383.6:c.3231_3235del (MSH6)	ENSP00000397484.2:p.Leu1078CysfsTer9
ENST00000700004.2:c.3173-619_3173-615del (MSH6)	ENSP00000514752.2:n.3173-619_3173-615del
ENST00000699999.1:n.3612_3616del (MSH6)
ENST00000700000.1:c.1962_1966del (MSH6)	ENSP00000514749.1:p.Leu655CysfsTer9
ENST00000700002.1:c.3534_3538del (MSH6)	ENSP00000514750.1:p.Leu1179CysfsTer9
ENST00000700003.1:c.983_987del (MSH6)	ENSP00000514751.1:n.983_987del
ENST00000700004.1:c.2330-619_2330-615del (MSH6)	ENSP00000514752.1:n.2330-619_2330-615del
ENST00000700005.1:n.2379_2383del (MSH6)
ENST00000700006.1:n.3600_3604del (MSH6)
ENST00000700007.1:n.1533_1537del (MSH6)
ENST00000700008.1:n.1107_1111del (MSH6)
ENST00000700009.1:n.1106_1110del (MSH6)
ENST00000700010.1:n.937_941del (MSH6)
ENST00000700011.1:n.2232_2236del (MSH6)
ENST00000234420.11:c.3528_3532del (MSH6) MANE Select	ENSP00000234420.5:p.Leu1177CysfsTer9
ENST00000540021.6:c.3138_3142del (MSH6)	ENSP00000446475.1:p.Leu1047CysfsTer9
ENST00000652107.1:c.3231_3235del (MSH6)	ENSP00000498629.1:p.Leu1078CysfsTer9
ENST00000673637.1:c.3231_3235del (MSH6)	ENSP00000501310.1:p.Leu1078CysfsTer9
ENST00000234420.9:c.3528_3532del (MSH6)	ENSP00000234420.4:p.Leu1177CysfsTer9
ENST00000405808.5:c.169+3193_169+3197del (FBXO11)	ENSP00000385127.1:n.169+3193_169+3197del
ENST00000434234.5:c.*124+2992_*124+2996del (FBXO11)	ENSP00000402692.1:n.*124+2992_*124+2996de...
ENST00000445503.5:c.*2875_*2879del (MSH6)	ENSP00000405294.1:n.*2875_*2879del
ENST00000538136.1:c.2622_2626del (MSH6)	ENSP00000438580.1:p.Leu875CysfsTer9
ENST00000540021.5:c.3138_3142del (MSH6)	ENSP00000446475.1:p.Leu1047CysfsTer9
ENST00000614496.4:c.2622_2626del (MSH6)	ENSP00000477844.1:p.Leu875CysfsTer9
ENST00000622629.4:c.432_436del (MSH6)	ENSP00000482078.1:p.Leu145CysfsTer9
NM_000179.2:c.3528_3532del , LRG_219t1:c.3528_3532del (MSH6)	NP_000170.1:p.Leu1177CysfsTer9
NM_001281492.1:c.3138_3142del (MSH6)	NP_001268421.1:p.Leu1047CysfsTer9
NM_001281493.1:c.2622_2626del (MSH6)	NP_001268422.1:p.Leu875CysfsTer9
NM_001281494.1:c.2622_2626del (MSH6)	NP_001268423.1:p.Leu875CysfsTer9
XM_005264271.1:c.3231_3235del (MSH6)	XP_005264328.1:p.Leu1078CysfsTer9
XM_011532798.1:c.3345_3349del (MSH6)	XP_011531100.1:p.Leu1116CysfsTer9
XM_011532799.1:c.3231_3235del (MSH6)	XP_011531101.1:p.Leu1078CysfsTer9
XM_011532800.1:c.3231_3235del (MSH6)	XP_011531102.1:p.Leu1078CysfsTer9
XM_024452819.1:c.3528_3532del (MSH6)	XP_024308587.1:p.Leu1177CysfsTer9
XM_024452820.1:c.3345_3349del (MSH6)	XP_024308588.1:p.Leu1116CysfsTer9
XM_024452821.1:c.3231_3235del (MSH6)	XP_024308589.1:p.Leu1078CysfsTer9
XM_024452822.1:c.2622_2626del (MSH6)	XP_024308590.1:p.Leu875CysfsTer9
NM_000179.3:c.3528_3532del (MSH6) MANE Select	NP_000170.1:p.Leu1177CysfsTer9
NM_001281492.2:c.3138_3142del (MSH6)	NP_001268421.1:p.Leu1047CysfsTer9
NM_001281493.2:c.2622_2626del (MSH6)	NP_001268422.1:p.Leu875CysfsTer9
NM_001281494.2:c.2622_2626del (MSH6)	NP_001268423.1:p.Leu875CysfsTer9