Canonical Allele Identifier: CA658655736

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 487417
• ClinVar RCV Id: RCV000576639
• dbSNP Id: rs1553333093
• MyVariant Identifiers: chr2:g.48033453_48033463del (hg19) ; chr2:g.47806314_47806324del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806314_47806324del , CM000664.2:g.47806314_47806324del	GRCh38
NC_000002.11:g.48033453_48033463del , CM000664.1:g.48033453_48033463del	GRCh37
NC_000002.10:g.47886957_47886967del	NCBI36
NG_007111.1:g.28168_28178del , LRG_219:g.28168_28178del
NG_008397.1:g.104356_104366del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3460_3470del (MSH6)	ENSP00000406248.2:p.Val1154PhefsTer18
ENST00000420813.6:c.3460_3470del (MSH6)	ENSP00000390382.2:p.Val1154PhefsTer18
ENST00000455383.6:c.3460_3470del (MSH6)	ENSP00000397484.2:p.Val1154PhefsTer18
ENST00000700004.2:c.3373_3383del (MSH6)	ENSP00000514752.2:p.Val1125PhefsTer18
ENST00000699999.1:n.4431_4441del (MSH6)
ENST00000700000.1:c.2191_2201del (MSH6)	ENSP00000514749.1:p.Val731PhefsTer18
ENST00000700002.1:c.3763_3773del (MSH6)	ENSP00000514750.1:p.Val1255PhefsTer18
ENST00000700003.1:c.1212_1222del (MSH6)	ENSP00000514751.1:n.1212_1222del
ENST00000700004.1:c.2530_2540del (MSH6)	ENSP00000514752.1:p.Val844PhefsTer18
ENST00000700005.1:n.2608_2618del (MSH6)
ENST00000700006.1:n.4915_4925del (MSH6)
ENST00000700007.1:n.2352_2362del (MSH6)
ENST00000700008.1:n.1926_1936del (MSH6)
ENST00000700009.1:n.2421_2431del (MSH6)
ENST00000700010.1:n.1166_1176del (MSH6)
ENST00000700011.1:n.3051_3061del (MSH6)
ENST00000682451.1:n.4428_4438del (FBXO11)
ENST00000684712.1:n.4690_4700del (FBXO11)
ENST00000234420.11:c.3757_3767del (MSH6) MANE Select	ENSP00000234420.5:p.Val1253PhefsTer18
ENST00000540021.6:c.3367_3377del (MSH6)	ENSP00000446475.1:p.Val1123PhefsTer18
ENST00000652107.1:c.3460_3470del (MSH6)	ENSP00000498629.1:p.Val1154PhefsTer18
ENST00000673637.1:c.3460_3470del (MSH6)	ENSP00000501310.1:p.Val1154PhefsTer18
ENST00000234420.9:c.3757_3767del (MSH6)	ENSP00000234420.4:p.Val1253PhefsTer18
ENST00000405808.5:c.169+1875_169+1885del (FBXO11)	ENSP00000385127.1:n.169+1875_169+1885del
ENST00000434234.5:c.*124+1674_*124+1684del (FBXO11)	ENSP00000402692.1:n.*124+1674_*124+1684del
ENST00000445503.5:c.*3104_*3114del (MSH6)	ENSP00000405294.1:n.*3104_*3114del
ENST00000538136.1:c.2851_2861del (MSH6)	ENSP00000438580.1:p.Val951PhefsTer18
ENST00000540021.5:c.3367_3377del (MSH6)	ENSP00000446475.1:p.Val1123PhefsTer18
ENST00000614496.4:c.2851_2861del (MSH6)	ENSP00000477844.1:p.Val951PhefsTer18
ENST00000622629.4:c.659_669del (MSH6)	ENSP00000482078.1:p.Ser220IlefsTer18
NM_000179.2:c.3757_3767del , LRG_219t1:c.3757_3767del (MSH6)	NP_000170.1:p.Val1253PhefsTer18
NM_001281492.1:c.3367_3377del (MSH6)	NP_001268421.1:p.Val1123PhefsTer18
NM_001281493.1:c.2851_2861del (MSH6)	NP_001268422.1:p.Val951PhefsTer18
NM_001281494.1:c.2851_2861del (MSH6)	NP_001268423.1:p.Val951PhefsTer18
XM_005264271.1:c.3460_3470del (MSH6)	XP_005264328.1:p.Val1154PhefsTer18
XM_011532798.1:c.3574_3584del (MSH6)	XP_011531100.1:p.Val1192PhefsTer18
XM_011532799.1:c.3460_3470del (MSH6)	XP_011531101.1:p.Val1154PhefsTer18
XM_011532800.1:c.3460_3470del (MSH6)	XP_011531102.1:p.Val1154PhefsTer18
XM_024452819.1:c.3757_3767del (MSH6)	XP_024308587.1:p.Val1253PhefsTer25
XM_024452820.1:c.3574_3584del (MSH6)	XP_024308588.1:p.Val1192PhefsTer25
XM_024452821.1:c.3460_3470del (MSH6)	XP_024308589.1:p.Val1154PhefsTer25
XM_024452822.1:c.2851_2861del (MSH6)	XP_024308590.1:p.Val951PhefsTer25
NM_000179.3:c.3757_3767del (MSH6) MANE Select	NP_000170.1:p.Val1253PhefsTer18
NM_001281492.2:c.3367_3377del (MSH6)	NP_001268421.1:p.Val1123PhefsTer18
NM_001281493.2:c.2851_2861del (MSH6)	NP_001268422.1:p.Val951PhefsTer18
NM_001281494.2:c.2851_2861del (MSH6)	NP_001268423.1:p.Val951PhefsTer18