Canonical Allele Identifier: CA012050

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89356
• ClinVar RCV Id: RCV000074822 ; RCV002267829
• dbSNP Id: rs267608090
• MyVariant Identifiers: chr2:g.48030607del (hg19) ; chr2:g.47803468del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803468del , CM000664.2:g.47803468del	GRCh38
NC_000002.11:g.48030607del , CM000664.1:g.48030607del	GRCh37
NC_000002.10:g.47884111del	NCBI36
NG_007111.1:g.25322del , LRG_219:g.25322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2924del (MSH6)	ENSP00000406248.2:p.Met975SerfsTer5
ENST00000420813.6:c.2924del (MSH6)	ENSP00000390382.2:p.Met975SerfsTer5
ENST00000455383.6:c.2924del (MSH6)	ENSP00000397484.2:p.Met975SerfsTer5
ENST00000700004.2:c.3173-2150del (MSH6)	ENSP00000514752.2:n.3173-2150del
ENST00000699999.1:n.3305del (MSH6)
ENST00000700000.1:c.1655del (MSH6)	ENSP00000514749.1:p.Met552SerfsTer5
ENST00000700002.1:c.3227del (MSH6)	ENSP00000514750.1:p.Met1076SerfsTer5
ENST00000700003.1:c.676del (MSH6)	ENSP00000514751.1:p.Cys226ValfsTer18
ENST00000700004.1:c.2330-2150del (MSH6)	ENSP00000514752.1:n.2330-2150del
ENST00000700005.1:n.2072del (MSH6)
ENST00000700006.1:n.2069del (MSH6)
ENST00000700007.1:n.1226del (MSH6)
ENST00000700008.1:n.800del (MSH6)
ENST00000700009.1:n.799del (MSH6)
ENST00000700010.1:n.630del (MSH6)
ENST00000700011.1:n.701del (MSH6)
ENST00000234420.11:c.3221del (MSH6) MANE Select	ENSP00000234420.5:p.Met1074SerfsTer5
ENST00000540021.6:c.2831del (MSH6)	ENSP00000446475.1:p.Met944SerfsTer5
ENST00000652107.1:c.2924del (MSH6)	ENSP00000498629.1:p.Met975SerfsTer5
ENST00000673637.1:c.2924del (MSH6)	ENSP00000501310.1:p.Met975SerfsTer5
ENST00000234420.9:c.3221del (MSH6)	ENSP00000234420.4:p.Met1074SerfsTer5
ENST00000405808.5:c.169+4727del (FBXO11)	ENSP00000385127.1:n.169+4727del
ENST00000434234.5:c.*124+4526del (FBXO11)	ENSP00000402692.1:n.*124+4526del
ENST00000445503.5:c.*2568del (MSH6)	ENSP00000405294.1:n.*2568del
ENST00000538136.1:c.2315del (MSH6)	ENSP00000438580.1:p.Met772SerfsTer5
ENST00000540021.5:c.2831del (MSH6)	ENSP00000446475.1:p.Met944SerfsTer5
ENST00000614496.4:c.2315del (MSH6)	ENSP00000477844.1:p.Met772SerfsTer5
ENST00000622629.4:c.125del (MSH6)	ENSP00000482078.1:p.Met42SerfsTer5
NM_000179.2:c.3221del , LRG_219t1:c.3221del (MSH6)	NP_000170.1:p.Met1074SerfsTer5
NM_001281492.1:c.2831del (MSH6)	NP_001268421.1:p.Met944SerfsTer5
NM_001281493.1:c.2315del (MSH6)	NP_001268422.1:p.Met772SerfsTer5
NM_001281494.1:c.2315del (MSH6)	NP_001268423.1:p.Met772SerfsTer5
XM_005264271.1:c.2924del (MSH6)	XP_005264328.1:p.Met975SerfsTer5
XM_011532798.1:c.3038del (MSH6)	XP_011531100.1:p.Met1013SerfsTer5
XM_011532799.1:c.2924del (MSH6)	XP_011531101.1:p.Met975SerfsTer5
XM_011532800.1:c.2924del (MSH6)	XP_011531102.1:p.Met975SerfsTer5
XM_024452819.1:c.3221del (MSH6)	XP_024308587.1:p.Met1074SerfsTer5
XM_024452820.1:c.3038del (MSH6)	XP_024308588.1:p.Met1013SerfsTer5
XM_024452821.1:c.2924del (MSH6)	XP_024308589.1:p.Met975SerfsTer5
XM_024452822.1:c.2315del (MSH6)	XP_024308590.1:p.Met772SerfsTer5
NM_000179.3:c.3221del (MSH6) MANE Select	NP_000170.1:p.Met1074SerfsTer5
NM_001281492.2:c.2831del (MSH6)	NP_001268421.1:p.Met944SerfsTer5
NM_001281493.2:c.2315del (MSH6)	NP_001268422.1:p.Met772SerfsTer5
NM_001281494.2:c.2315del (MSH6)	NP_001268423.1:p.Met772SerfsTer5