Canonical Allele Identifier: CA2658970591

Gene: MSH6 FBXO11

Linked Data

• gnomAD v4: 2-47806855-T-TTA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806858_47806859dup , CM000664.2:g.47806858_47806859dup	GRCh38
NC_000002.11:g.48033997_48033998dup , CM000664.1:g.48033997_48033998dup	GRCh37
NC_000002.10:g.47887501_47887502dup	NCBI36
NG_007111.1:g.28712_28713dup , LRG_219:g.28712_28713dup
NG_008397.1:g.103819_103820dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3784_3785dup (MSH6)	ENSP00000406248.2:p.Ter1262TyrextTer11
ENST00000420813.6:c.3784_3785dup (MSH6)	ENSP00000390382.2:p.Ter1262TyrextTer11
ENST00000455383.6:c.3784_3785dup (MSH6)	ENSP00000397484.2:p.Ter1262TyrextTer11
ENST00000700004.2:c.3697_3698dup (MSH6)	ENSP00000514752.2:p.Ter1233TyrextTer11
ENST00000699999.1:n.4755_4756dup (MSH6)
ENST00000700000.1:c.2515_2516dup (MSH6)	ENSP00000514749.1:p.Ter839TyrextTer11
ENST00000700002.1:c.4087_4088dup (MSH6)	ENSP00000514750.1:p.Ter1363TyrextTer11
ENST00000700003.1:c.1536_1537dup (MSH6)	ENSP00000514751.1:n.1536_1537dup
ENST00000700004.1:c.2854_2855dup (MSH6)	ENSP00000514752.1:p.Ter952TyrextTer11
ENST00000700005.1:n.3059_3060dup (MSH6)
ENST00000700007.1:n.2676_2677dup (MSH6)
ENST00000700008.1:n.2343_2344dup (MSH6)
ENST00000700009.1:n.2745_2746dup (MSH6)
ENST00000700010.1:n.1490_1491dup (MSH6)
ENST00000700011.1:n.3375_3376dup (MSH6)
ENST00000682451.1:n.3891_3892dup (FBXO11)
ENST00000684712.1:n.4153_4154dup (FBXO11)
ENST00000234420.11:c.4081_4082dup (MSH6) MANE Select	ENSP00000234420.5:p.Ter1361TyrextTer11
ENST00000540021.6:c.3691_3692dup (MSH6)	ENSP00000446475.1:p.Ter1231TyrextTer11
ENST00000652107.1:c.3784_3785dup (MSH6)	ENSP00000498629.1:p.Ter1262TyrextTer11
ENST00000673637.1:c.3784_3785dup (MSH6)	ENSP00000501310.1:p.Ter1262TyrextTer11
ENST00000234420.9:c.4081_4082dup (MSH6)	ENSP00000234420.4:p.Ter1361TyrextTer11
ENST00000405808.5:c.169+1338_169+1339dup (FBXO11)	ENSP00000385127.1:n.169+1338_169+1339dup
ENST00000434234.5:c.*124+1137_*124+1138dup (FBXO11)	ENSP00000402692.1:n.*124+1137_*124+1138du...
ENST00000445503.5:c.*3428_*3429dup (MSH6)	ENSP00000405294.1:n.*3428_*3429dup
ENST00000465204.5:n.3053_3054dup (FBXO11)
ENST00000538136.1:c.3175_3176dup (MSH6)	ENSP00000438580.1:p.Ter1059TyrextTer11
ENST00000540021.5:c.3691_3692dup (MSH6)	ENSP00000446475.1:p.Ter1231TyrextTer11
ENST00000614496.4:c.3175_3176dup (MSH6)	ENSP00000477844.1:p.Ter1059TyrextTer11
ENST00000622629.4:c.982_983dup (MSH6)	ENSP00000482078.1:p.Ter328TyrextTer11
NM_000179.2:c.4081_4082dup , LRG_219t1:c.4081_4082dup (MSH6)	NP_000170.1:p.Ter1361TyrextTer11
NM_001281492.1:c.3691_3692dup (MSH6)	NP_001268421.1:p.Ter1231TyrextTer11
NM_001281493.1:c.3175_3176dup (MSH6)	NP_001268422.1:p.Ter1059TyrextTer11
NM_001281494.1:c.3175_3176dup (MSH6)	NP_001268423.1:p.Ter1059TyrextTer11
XM_005264271.1:c.3784_3785dup (MSH6)	XP_005264328.1:p.Ter1262TyrextTer11
XM_011532798.1:c.3898_3899dup (MSH6)	XP_011531100.1:p.Ter1300TyrextTer11
XM_011532799.1:c.3784_3785dup (MSH6)	XP_011531101.1:p.Ter1262TyrextTer11
XM_011532800.1:c.3784_3785dup (MSH6)	XP_011531102.1:p.Ter1262TyrextTer11
XM_024452819.1:c.4174_4175dup (MSH6)	XP_024308587.1:p.Ter1392TyrextTer11
XM_024452820.1:c.3991_3992dup (MSH6)	XP_024308588.1:p.Ter1331TyrextTer11
XM_024452821.1:c.3877_3878dup (MSH6)	XP_024308589.1:p.Ter1293TyrextTer11
XM_024452822.1:c.3268_3269dup (MSH6)	XP_024308590.1:p.Ter1090TyrextTer11
NM_000179.3:c.4081_4082dup (MSH6) MANE Select	NP_000170.1:p.Ter1361TyrextTer11
NM_001281492.2:c.3691_3692dup (MSH6)	NP_001268421.1:p.Ter1231TyrextTer11
NM_001281493.2:c.3175_3176dup (MSH6)	NP_001268422.1:p.Ter1059TyrextTer11
NM_001281494.2:c.3175_3176dup (MSH6)	NP_001268423.1:p.Ter1059TyrextTer11