Canonical Allele Identifier: CA2580067300

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1734258
• ClinVar RCV Id: RCV002349059

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806276_47806277insT , CM000664.2:g.47806276_47806277insT	GRCh38
NC_000002.11:g.48033415_48033416insT , CM000664.1:g.48033415_48033416insT	GRCh37
NC_000002.10:g.47886919_47886920insT	NCBI36
NG_007111.1:g.28130_28131insT , LRG_219:g.28130_28131insT
NG_008397.1:g.104399_104400insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3422_3423insT (MSH6)	ENSP00000406248.2:p.Lys1141AsnfsTer?
ENST00000420813.6:c.3422_3423insT (MSH6)	ENSP00000390382.2:p.Lys1141AsnfsTer?
ENST00000455383.6:c.3422_3423insT (MSH6)	ENSP00000397484.2:p.Lys1141AsnfsTer?
ENST00000700004.2:c.3335_3336insT (MSH6)	ENSP00000514752.2:p.Lys1112AsnfsTer?
ENST00000699999.1:n.4393_4394insT (MSH6)
ENST00000700000.1:c.2153_2154insT (MSH6)	ENSP00000514749.1:p.Lys718AsnfsTer?
ENST00000700002.1:c.3725_3726insT (MSH6)	ENSP00000514750.1:p.Lys1242AsnfsTer?
ENST00000700003.1:c.1174_1175insT (MSH6)	ENSP00000514751.1:n.1174_1175insT
ENST00000700004.1:c.2492_2493insT (MSH6)	ENSP00000514752.1:p.Lys831AsnfsTer?
ENST00000700005.1:n.2570_2571insT (MSH6)
ENST00000700006.1:n.4877_4878insT (MSH6)
ENST00000700007.1:n.2314_2315insT (MSH6)
ENST00000700008.1:n.1888_1889insT (MSH6)
ENST00000700009.1:n.2383_2384insT (MSH6)
ENST00000700010.1:n.1128_1129insT (MSH6)
ENST00000700011.1:n.3013_3014insT (MSH6)
ENST00000682451.1:n.4471_4472insA (FBXO11)
ENST00000684712.1:n.4733_4734insA (FBXO11)
ENST00000234420.11:c.3719_3720insT (MSH6) MANE Select	ENSP00000234420.5:p.Lys1240AsnfsTer?
ENST00000540021.6:c.3329_3330insT (MSH6)	ENSP00000446475.1:p.Lys1110AsnfsTer?
ENST00000652107.1:c.3422_3423insT (MSH6)	ENSP00000498629.1:p.Lys1141AsnfsTer?
ENST00000673637.1:c.3422_3423insT (MSH6)	ENSP00000501310.1:p.Lys1141AsnfsTer?
ENST00000234420.9:c.3719_3720insT (MSH6)	ENSP00000234420.4:p.Lys1240AsnfsTer?
ENST00000405808.5:c.169+1918_169+1919insA (FBXO11)	ENSP00000385127.1:n.169+1918_169+1919insA
ENST00000434234.5:c.*124+1717_*124+1718insA (FBXO11)	ENSP00000402692.1:n.*124+1717_*124+1718insA
ENST00000445503.5:c.*3066_*3067insT (MSH6)	ENSP00000405294.1:n.*3066_*3067insT
ENST00000538136.1:c.2813_2814insT (MSH6)	ENSP00000438580.1:p.Lys938AsnfsTer?
ENST00000540021.5:c.3329_3330insT (MSH6)	ENSP00000446475.1:p.Lys1110AsnfsTer?
ENST00000614496.4:c.2813_2814insT (MSH6)	ENSP00000477844.1:p.Lys938AsnfsTer?
ENST00000622629.4:c.623_624insT (MSH6)	ENSP00000482078.1:p.Lys208AsnfsTer13
NM_000179.2:c.3719_3720insT , LRG_219t1:c.3719_3720insT (MSH6)	NP_000170.1:p.Lys1240AsnfsTer?
NM_001281492.1:c.3329_3330insT (MSH6)	NP_001268421.1:p.Lys1110AsnfsTer?
NM_001281493.1:c.2813_2814insT (MSH6)	NP_001268422.1:p.Lys938AsnfsTer?
NM_001281494.1:c.2813_2814insT (MSH6)	NP_001268423.1:p.Lys938AsnfsTer?
XM_005264271.1:c.3422_3423insT (MSH6)	XP_005264328.1:p.Lys1141AsnfsTer?
XM_011532798.1:c.3536_3537insT (MSH6)	XP_011531100.1:p.Lys1179AsnfsTer?
XM_011532799.1:c.3422_3423insT (MSH6)	XP_011531101.1:p.Lys1141AsnfsTer?
XM_011532800.1:c.3422_3423insT (MSH6)	XP_011531102.1:p.Lys1141AsnfsTer?
XM_024452819.1:c.3719_3720insT (MSH6)	XP_024308587.1:p.Lys1240AsnfsTer?
XM_024452820.1:c.3536_3537insT (MSH6)	XP_024308588.1:p.Lys1179AsnfsTer?
XM_024452821.1:c.3422_3423insT (MSH6)	XP_024308589.1:p.Lys1141AsnfsTer?
XM_024452822.1:c.2813_2814insT (MSH6)	XP_024308590.1:p.Lys938AsnfsTer?
NM_000179.3:c.3719_3720insT (MSH6) MANE Select	NP_000170.1:p.Lys1240AsnfsTer?
NM_001281492.2:c.3329_3330insT (MSH6)	NP_001268421.1:p.Lys1110AsnfsTer?
NM_001281493.2:c.2813_2814insT (MSH6)	NP_001268422.1:p.Lys938AsnfsTer?
NM_001281494.2:c.2813_2814insT (MSH6)	NP_001268423.1:p.Lys938AsnfsTer?