Canonical Allele Identifier: CA532705514

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1050945
• ClinVar RCV Id: RCV001358918
• dbSNP Id: rs1553333410
• gnomAD v2: 2-48033635-T-TATTACGTTCCTC
• MyVariant Identifiers: chr2:g.48033635_48033636insATTACGTTCCTC (hg19) ; chr2:g.47806496_47806497insATTACGTTCCTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806497_47806508dup , CM000664.2:g.47806497_47806508dup	GRCh38
NC_000002.11:g.48033636_48033647dup , CM000664.1:g.48033636_48033647dup	GRCh37
NC_000002.10:g.47887140_47887151dup	NCBI36
NG_007111.1:g.28351_28362dup , LRG_219:g.28351_28362dup
NG_008397.1:g.104168_104179dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3550_3561dup (MSH6)	ENSP00000406248.2:p.Leu1187_Tyr1188insIleThrPheLeu
ENST00000420813.6:c.3550_3561dup (MSH6)	ENSP00000390382.2:p.Leu1187_Tyr1188insIleThrPheLeu
ENST00000455383.6:c.3550_3561dup (MSH6)	ENSP00000397484.2:p.Leu1187_Tyr1188insIleThrPheLeu
ENST00000700004.2:c.3463_3474dup (MSH6)	ENSP00000514752.2:p.Leu1158_Tyr1159insIleThrPheLeu
ENST00000699999.1:n.4521_4532dup (MSH6)
ENST00000700000.1:c.2281_2292dup (MSH6)	ENSP00000514749.1:p.Leu764_Tyr765insIleThrPheLeu
ENST00000700002.1:c.3853_3864dup (MSH6)	ENSP00000514750.1:p.Leu1288_Tyr1289insIleThrPheLeu
ENST00000700003.1:c.1302_1313dup (MSH6)	ENSP00000514751.1:n.1302_1313dup
ENST00000700004.1:c.2620_2631dup (MSH6)	ENSP00000514752.1:p.Leu877_Tyr878insIleThrPheLeu
ENST00000700005.1:n.2698_2709dup (MSH6)
ENST00000700006.1:n.5005_5016dup (MSH6)
ENST00000700007.1:n.2442_2453dup (MSH6)
ENST00000700008.1:n.2109_2120dup (MSH6)
ENST00000700009.1:n.2511_2522dup (MSH6)
ENST00000700010.1:n.1256_1267dup (MSH6)
ENST00000700011.1:n.3141_3152dup (MSH6)
ENST00000682451.1:n.4240_4251dup (FBXO11)
ENST00000684712.1:n.4502_4513dup (FBXO11)
ENST00000234420.11:c.3847_3858dup (MSH6) MANE Select	ENSP00000234420.5:p.Leu1286_Tyr1287insIleThrPheLeu
ENST00000540021.6:c.3457_3468dup (MSH6)	ENSP00000446475.1:p.Leu1156_Tyr1157insIleThrPheLeu
ENST00000652107.1:c.3550_3561dup (MSH6)	ENSP00000498629.1:p.Leu1187_Tyr1188insIleThrPheLeu
ENST00000673637.1:c.3550_3561dup (MSH6)	ENSP00000501310.1:p.Leu1187_Tyr1188insIleThrPheLeu
ENST00000234420.9:c.3847_3858dup (MSH6)	ENSP00000234420.4:p.Leu1286_Tyr1287insIleThrPheLeu
ENST00000405808.5:c.169+1687_169+1698dup (FBXO11)	ENSP00000385127.1:n.169+1687_169+1698dup
ENST00000434234.5:c.*124+1486_*124+1497dup (FBXO11)	ENSP00000402692.1:n.*124+1486_*124+1497dup
ENST00000445503.5:c.*3194_*3205dup (MSH6)	ENSP00000405294.1:n.*3194_*3205dup
ENST00000538136.1:c.2941_2952dup (MSH6)	ENSP00000438580.1:p.Leu984_Tyr985insIleThrPheLeu
ENST00000540021.5:c.3457_3468dup (MSH6)	ENSP00000446475.1:p.Leu1156_Tyr1157insIleThrPheLeu
ENST00000614496.4:c.2941_2952dup (MSH6)	ENSP00000477844.1:p.Leu984_Tyr985insIleThrPheLeu
ENST00000622629.4:c.748_759dup (MSH6)	ENSP00000482078.1:p.Leu253_Tyr254insIleThrPheLeu
NM_000179.2:c.3847_3858dup , LRG_219t1:c.3847_3858dup (MSH6)	NP_000170.1:p.Leu1286_Tyr1287insIleThrPheLeu
NM_001281492.1:c.3457_3468dup (MSH6)	NP_001268421.1:p.Leu1156_Tyr1157insIleThrPheLeu
NM_001281493.1:c.2941_2952dup (MSH6)	NP_001268422.1:p.Leu984_Tyr985insIleThrPheLeu
NM_001281494.1:c.2941_2952dup (MSH6)	NP_001268423.1:p.Leu984_Tyr985insIleThrPheLeu
XM_005264271.1:c.3550_3561dup (MSH6)	XP_005264328.1:p.Leu1187_Tyr1188insIleThrPheLeu
XM_011532798.1:c.3664_3675dup (MSH6)	XP_011531100.1:p.Leu1225_Tyr1226insIleThrPheLeu
XM_011532799.1:c.3550_3561dup (MSH6)	XP_011531101.1:p.Leu1187_Tyr1188insIleThrPheLeu
XM_011532800.1:c.3550_3561dup (MSH6)	XP_011531102.1:p.Leu1187_Tyr1188insIleThrPheLeu
XM_024452819.1:c.3940_3951dup (MSH6)	XP_024308587.1:p.Leu1317_Tyr1318insIleThrPheLeu
XM_024452820.1:c.3757_3768dup (MSH6)	XP_024308588.1:p.Leu1256_Tyr1257insIleThrPheLeu
XM_024452821.1:c.3643_3654dup (MSH6)	XP_024308589.1:p.Leu1218_Tyr1219insIleThrPheLeu
XM_024452822.1:c.3034_3045dup (MSH6)	XP_024308590.1:p.Leu1015_Tyr1016insIleThrPheLeu
NM_000179.3:c.3847_3858dup (MSH6) MANE Select	NP_000170.1:p.Leu1286_Tyr1287insIleThrPheLeu
NM_001281492.2:c.3457_3468dup (MSH6)	NP_001268421.1:p.Leu1156_Tyr1157insIleThrPheLeu
NM_001281493.2:c.2941_2952dup (MSH6)	NP_001268422.1:p.Leu984_Tyr985insIleThrPheLeu
NM_001281494.2:c.2941_2952dup (MSH6)	NP_001268423.1:p.Leu984_Tyr985insIleThrPheLeu