Canonical Allele Identifier: CA10578090

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 230953
• ClinVar RCV Id: RCV000219907 ; RCV003454625
• dbSNP Id: rs876658864
• MyVariant Identifiers: chr2:g.48027158_48027164delinsGG (hg19) ; chr2:g.47800019_47800025delinsGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800019_47800025delinsGG , CM000664.2:g.47800019_47800025delinsGG	GRCh38
NC_000002.11:g.48027158_48027164delinsGG , CM000664.1:g.48027158_48027164delinsGG	GRCh37
NC_000002.10:g.47880662_47880668delinsGG	NCBI36
NG_007111.1:g.21873_21879delinsGG , LRG_219:g.21873_21879delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1739_1745delinsGG (MSH6)	ENSP00000406248.2:p.Leu580TrpfsTer17
ENST00000420813.6:c.1739_1745delinsGG (MSH6)	ENSP00000390382.2:p.Leu580TrpfsTer17
ENST00000455383.6:c.1739_1745delinsGG (MSH6)	ENSP00000397484.2:p.Leu580TrpfsTer17
ENST00000700004.2:c.2036_2042delinsGG (MSH6)	ENSP00000514752.2:p.Leu679TrpfsTer17
ENST00000699999.1:n.2120_2126delinsGG (MSH6)
ENST00000700000.1:c.1606+430_1606+436delinsGG (MSH6)	ENSP00000514749.1:n.1606+430_1606+436delinsGG
ENST00000700002.1:c.2042_2048delinsGG (MSH6)	ENSP00000514750.1:p.Leu681TrpfsTer17
ENST00000700003.1:c.628-3401_628-3395delinsGG (MSH6)	ENSP00000514751.1:n.628-3401_628-3395delinsGG
ENST00000700004.1:c.1193_1199delinsGG (MSH6)	ENSP00000514752.1:p.Leu398TrpfsTer17
ENST00000234420.11:c.2036_2042delinsGG (MSH6) MANE Select	ENSP00000234420.5:p.Leu679TrpfsTer17
ENST00000540021.6:c.1646_1652delinsGG (MSH6)	ENSP00000446475.1:p.Leu549TrpfsTer17
ENST00000652107.1:c.1739_1745delinsGG (MSH6)	ENSP00000498629.1:p.Leu580TrpfsTer17
ENST00000673637.1:c.1739_1745delinsGG (MSH6)	ENSP00000501310.1:p.Leu580TrpfsTer17
ENST00000234420.9:c.2036_2042delinsGG (MSH6)	ENSP00000234420.4:p.Leu679TrpfsTer17
ENST00000405808.5:c.169+8170_169+8176delinsCC (FBXO11)	ENSP00000385127.1:n.169+8170_169+8176delinsCC
ENST00000434234.5:c.*124+7969_*124+7975delinsCC (FBXO11)	ENSP00000402692.1:n.*124+7969_*124+7975delinsCC
ENST00000445503.5:c.*1383_*1389delinsGG (MSH6)	ENSP00000405294.1:n.*1383_*1389delinsGG
ENST00000538136.1:c.1130_1136delinsGG (MSH6)	ENSP00000438580.1:p.Leu377TrpfsTer17
ENST00000540021.5:c.1646_1652delinsGG (MSH6)	ENSP00000446475.1:p.Leu549TrpfsTer17
ENST00000614496.4:c.1130_1136delinsGG (MSH6)	ENSP00000477844.1:p.Leu377TrpfsTer17
ENST00000616033.4:c.2033_2039delinsGG (MSH6)	ENSP00000480261.1:p.Leu678TrpfsTer17
ENST00000622629.4:c.-1061_-1055delinsGG (MSH6)	ENSP00000482078.1:n.-1061_-1055delinsGG
NM_000179.2:c.2036_2042delinsGG , LRG_219t1:c.2036_2042delinsGG (MSH6)	NP_000170.1:p.Leu679TrpfsTer17
NM_001281492.1:c.1646_1652delinsGG (MSH6)	NP_001268421.1:p.Leu549TrpfsTer17
NM_001281493.1:c.1130_1136delinsGG (MSH6)	NP_001268422.1:p.Leu377TrpfsTer17
NM_001281494.1:c.1130_1136delinsGG (MSH6)	NP_001268423.1:p.Leu377TrpfsTer17
XM_005264271.1:c.1739_1745delinsGG (MSH6)	XP_005264328.1:p.Leu580TrpfsTer17
XM_011532798.1:c.1853_1859delinsGG (MSH6)	XP_011531100.1:p.Leu618TrpfsTer17
XM_011532799.1:c.1739_1745delinsGG (MSH6)	XP_011531101.1:p.Leu580TrpfsTer17
XM_011532800.1:c.1739_1745delinsGG (MSH6)	XP_011531102.1:p.Leu580TrpfsTer17
XM_024452819.1:c.2036_2042delinsGG (MSH6)	XP_024308587.1:p.Leu679TrpfsTer17
XM_024452820.1:c.1853_1859delinsGG (MSH6)	XP_024308588.1:p.Leu618TrpfsTer17
XM_024452821.1:c.1739_1745delinsGG (MSH6)	XP_024308589.1:p.Leu580TrpfsTer17
XM_024452822.1:c.1130_1136delinsGG (MSH6)	XP_024308590.1:p.Leu377TrpfsTer17
NM_000179.3:c.2036_2042delinsGG (MSH6) MANE Select	NP_000170.1:p.Leu679TrpfsTer17
NM_001281492.2:c.1646_1652delinsGG (MSH6)	NP_001268421.1:p.Leu549TrpfsTer17
NM_001281493.2:c.1130_1136delinsGG (MSH6)	NP_001268422.1:p.Leu377TrpfsTer17
NM_001281494.2:c.1130_1136delinsGG (MSH6)	NP_001268423.1:p.Leu377TrpfsTer17