Canonical Allele Identifier: CA348238

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 220947
• ClinVar RCV Id: RCV000203959 ; RCV000573760 ; RCV000986754 ; RCV001201374
• dbSNP Id: rs864622703
• gnomAD v4: 2-47806807-ACTGTAGATG-A
• MyVariant Identifiers: chr2:g.48033950_48033958del (hg19) ; chr2:g.48033947_48033955del (hg19) ; chr2:g.47806811_47806819del (hg38) ; chr2:g.47806808_47806816del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806811_47806819del , CM000664.2:g.47806811_47806819del	GRCh38
NC_000002.11:g.48033950_48033958del , CM000664.1:g.48033950_48033958del	GRCh37
NC_000002.10:g.47887454_47887462del	NCBI36
NG_007111.1:g.28665_28673del , LRG_219:g.28665_28673del
NG_008397.1:g.103860_103868del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3737_3745del (MSH6)	ENSP00000406248.2:p.Val1246_Ala1248del
ENST00000420813.6:c.3737_3745del (MSH6)	ENSP00000390382.2:p.Val1246_Ala1248del
ENST00000455383.6:c.3737_3745del (MSH6)	ENSP00000397484.2:p.Val1246_Ala1248del
ENST00000700004.2:c.3650_3658del (MSH6)	ENSP00000514752.2:p.Val1217_Ala1219del
ENST00000699999.1:n.4708_4716del (MSH6)
ENST00000700000.1:c.2468_2476del (MSH6)	ENSP00000514749.1:p.Val823_Ala825del
ENST00000700002.1:c.4040_4048del (MSH6)	ENSP00000514750.1:p.Val1347_Ala1349del
ENST00000700003.1:c.1489_1497del (MSH6)	ENSP00000514751.1:n.1489_1497del
ENST00000700004.1:c.2807_2815del (MSH6)	ENSP00000514752.1:p.Val936_Ala938del
ENST00000700005.1:n.3012_3020del (MSH6)
ENST00000700007.1:n.2629_2637del (MSH6)
ENST00000700008.1:n.2296_2304del (MSH6)
ENST00000700009.1:n.2698_2706del (MSH6)
ENST00000700010.1:n.1443_1451del (MSH6)
ENST00000700011.1:n.3328_3336del (MSH6)
ENST00000682451.1:n.3932_3940del (FBXO11)
ENST00000684712.1:n.4194_4202del (FBXO11)
ENST00000234420.11:c.4034_4042del (MSH6) MANE Select	ENSP00000234420.5:p.Val1345_Ala1347del
ENST00000540021.6:c.3644_3652del (MSH6)	ENSP00000446475.1:p.Val1215_Ala1217del
ENST00000652107.1:c.3737_3745del (MSH6)	ENSP00000498629.1:p.Val1246_Ala1248del
ENST00000673637.1:c.3737_3745del (MSH6)	ENSP00000501310.1:p.Val1246_Ala1248del
ENST00000234420.9:c.4034_4042del (MSH6)	ENSP00000234420.4:p.Val1345_Ala1347del
ENST00000405808.5:c.169+1379_169+1387del (FBXO11)	ENSP00000385127.1:n.169+1379_169+1387del
ENST00000434234.5:c.*124+1178_*124+1186del (FBXO11)	ENSP00000402692.1:n.*124+1178_*124+1186del
ENST00000445503.5:c.*3381_*3389del (MSH6)	ENSP00000405294.1:n.*3381_*3389del
ENST00000465204.5:n.3094_3102del (FBXO11)
ENST00000538136.1:c.3128_3136del (MSH6)	ENSP00000438580.1:p.Val1043_Ala1045del
ENST00000540021.5:c.3644_3652del (MSH6)	ENSP00000446475.1:p.Val1215_Ala1217del
ENST00000614496.4:c.3128_3136del (MSH6)	ENSP00000477844.1:p.Val1043_Ala1045del
ENST00000622629.4:c.935_943del (MSH6)	ENSP00000482078.1:p.Val312_Ala314del
NM_000179.2:c.4034_4042del , LRG_219t1:c.4034_4042del (MSH6)	NP_000170.1:p.Val1345_Ala1347del
NM_001281492.1:c.3644_3652del (MSH6)	NP_001268421.1:p.Val1215_Ala1217del
NM_001281493.1:c.3128_3136del (MSH6)	NP_001268422.1:p.Val1043_Ala1045del
NM_001281494.1:c.3128_3136del (MSH6)	NP_001268423.1:p.Val1043_Ala1045del
XM_005264271.1:c.3737_3745del (MSH6)	XP_005264328.1:p.Val1246_Ala1248del
XM_011532798.1:c.3851_3859del (MSH6)	XP_011531100.1:p.Val1284_Ala1286del
XM_011532799.1:c.3737_3745del (MSH6)	XP_011531101.1:p.Val1246_Ala1248del
XM_011532800.1:c.3737_3745del (MSH6)	XP_011531102.1:p.Val1246_Ala1248del
XM_024452819.1:c.4127_4135del (MSH6)	XP_024308587.1:p.Val1376_Ala1378del
XM_024452820.1:c.3944_3952del (MSH6)	XP_024308588.1:p.Val1315_Ala1317del
XM_024452821.1:c.3830_3838del (MSH6)	XP_024308589.1:p.Val1277_Ala1279del
XM_024452822.1:c.3221_3229del (MSH6)	XP_024308590.1:p.Val1074_Ala1076del
NM_000179.3:c.4034_4042del (MSH6) MANE Select	NP_000170.1:p.Val1345_Ala1347del
NM_001281492.2:c.3644_3652del (MSH6)	NP_001268421.1:p.Val1215_Ala1217del
NM_001281493.2:c.3128_3136del (MSH6)	NP_001268422.1:p.Val1043_Ala1045del
NM_001281494.2:c.3128_3136del (MSH6)	NP_001268423.1:p.Val1043_Ala1045del