Canonical Allele Identifier: CA1139771108

Gene: MSH6 FBXO11

Linked Data

• gnomAD v4: 2-47806567-C-CTAATCTCCCAGAGGAAGTTATTCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806568_47806592dup , CM000664.2:g.47806568_47806592dup	GRCh38
NC_000002.11:g.48033707_48033731dup , CM000664.1:g.48033707_48033731dup	GRCh37
NC_000002.10:g.47887211_47887235dup	NCBI36
NG_007111.1:g.28422_28446dup , LRG_219:g.28422_28446dup
NG_008397.1:g.104084_104108dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3621_3645dup (MSH6)	ENSP00000406248.2:p.Lys1216Ter
ENST00000420813.6:c.3621_3645dup (MSH6)	ENSP00000390382.2:p.Lys1216Ter
ENST00000455383.6:c.3621_3645dup (MSH6)	ENSP00000397484.2:p.Lys1216Ter
ENST00000700004.2:c.3534_3558dup (MSH6)	ENSP00000514752.2:p.Lys1187Ter
ENST00000699999.1:n.4592_4616dup (MSH6)
ENST00000700000.1:c.2352_2376dup (MSH6)	ENSP00000514749.1:p.Lys793Ter
ENST00000700002.1:c.3924_3948dup (MSH6)	ENSP00000514750.1:p.Lys1317Ter
ENST00000700003.1:c.1373_1397dup (MSH6)	ENSP00000514751.1:n.1373_1397dup
ENST00000700004.1:c.2691_2715dup (MSH6)	ENSP00000514752.1:p.Lys906Ter
ENST00000700005.1:n.2769_2793dup (MSH6)
ENST00000700006.1:n.5076_5100dup (MSH6)
ENST00000700007.1:n.2513_2537dup (MSH6)
ENST00000700008.1:n.2180_2204dup (MSH6)
ENST00000700009.1:n.2582_2606dup (MSH6)
ENST00000700010.1:n.1327_1351dup (MSH6)
ENST00000700011.1:n.3212_3236dup (MSH6)
ENST00000682451.1:n.4156_4180dup (FBXO11)
ENST00000684712.1:n.4418_4442dup (FBXO11)
ENST00000234420.11:c.3918_3942dup (MSH6) MANE Select	ENSP00000234420.5:p.Lys1315Ter
ENST00000540021.6:c.3528_3552dup (MSH6)	ENSP00000446475.1:p.Lys1185Ter
ENST00000652107.1:c.3621_3645dup (MSH6)	ENSP00000498629.1:p.Lys1216Ter
ENST00000673637.1:c.3621_3645dup (MSH6)	ENSP00000501310.1:p.Lys1216Ter
ENST00000234420.9:c.3918_3942dup (MSH6)	ENSP00000234420.4:p.Lys1315Ter
ENST00000405808.5:c.169+1603_169+1627dup (FBXO11)	ENSP00000385127.1:n.169+1603_169+1627dup
ENST00000434234.5:c.*124+1402_*124+1426dup (FBXO11)	ENSP00000402692.1:n.*124+1402_*124+1426dup
ENST00000445503.5:c.*3265_*3289dup (MSH6)	ENSP00000405294.1:n.*3265_*3289dup
ENST00000538136.1:c.3012_3036dup (MSH6)	ENSP00000438580.1:p.Lys1013Ter
ENST00000540021.5:c.3528_3552dup (MSH6)	ENSP00000446475.1:p.Lys1185Ter
ENST00000614496.4:c.3012_3036dup (MSH6)	ENSP00000477844.1:p.Lys1013Ter
ENST00000622629.4:c.819_843dup (MSH6)	ENSP00000482078.1:p.Lys282Ter
NM_000179.2:c.3918_3942dup , LRG_219t1:c.3918_3942dup (MSH6)	NP_000170.1:p.Lys1315Ter
NM_001281492.1:c.3528_3552dup (MSH6)	NP_001268421.1:p.Lys1185Ter
NM_001281493.1:c.3012_3036dup (MSH6)	NP_001268422.1:p.Lys1013Ter
NM_001281494.1:c.3012_3036dup (MSH6)	NP_001268423.1:p.Lys1013Ter
XM_005264271.1:c.3621_3645dup (MSH6)	XP_005264328.1:p.Lys1216Ter
XM_011532798.1:c.3735_3759dup (MSH6)	XP_011531100.1:p.Lys1254Ter
XM_011532799.1:c.3621_3645dup (MSH6)	XP_011531101.1:p.Lys1216Ter
XM_011532800.1:c.3621_3645dup (MSH6)	XP_011531102.1:p.Lys1216Ter
XM_024452819.1:c.4011_4035dup (MSH6)	XP_024308587.1:p.Lys1346Ter
XM_024452820.1:c.3828_3852dup (MSH6)	XP_024308588.1:p.Lys1285Ter
XM_024452821.1:c.3714_3738dup (MSH6)	XP_024308589.1:p.Lys1247Ter
XM_024452822.1:c.3105_3129dup (MSH6)	XP_024308590.1:p.Lys1044Ter
NM_000179.3:c.3918_3942dup (MSH6) MANE Select	NP_000170.1:p.Lys1315Ter
NM_001281492.2:c.3528_3552dup (MSH6)	NP_001268421.1:p.Lys1185Ter
NM_001281493.2:c.3012_3036dup (MSH6)	NP_001268422.1:p.Lys1013Ter
NM_001281494.2:c.3012_3036dup (MSH6)	NP_001268423.1:p.Lys1013Ter