Canonical Allele Identifier: CA2658970300

Gene: MSH6 FBXO11

Linked Data

• gnomAD v4: 2-47806782-A-AGTTTGCCTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806783_47806793dup , CM000664.2:g.47806783_47806793dup	GRCh38
NC_000002.11:g.48033922_48033932dup , CM000664.1:g.48033922_48033932dup	GRCh37
NC_000002.10:g.47887426_47887436dup	NCBI36
NG_007111.1:g.28637_28647dup , LRG_219:g.28637_28647dup
NG_008397.1:g.103883_103893dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3709_3719dup (MSH6)	ENSP00000406248.2:p.Ser1241PhefsTer10
ENST00000420813.6:c.3709_3719dup (MSH6)	ENSP00000390382.2:p.Ser1241PhefsTer10
ENST00000455383.6:c.3709_3719dup (MSH6)	ENSP00000397484.2:p.Ser1241PhefsTer10
ENST00000700004.2:c.3622_3632dup (MSH6)	ENSP00000514752.2:p.Ser1212PhefsTer10
ENST00000699999.1:n.4680_4690dup (MSH6)
ENST00000700000.1:c.2440_2450dup (MSH6)	ENSP00000514749.1:p.Ser818PhefsTer10
ENST00000700002.1:c.4012_4022dup (MSH6)	ENSP00000514750.1:p.Ser1342PhefsTer10
ENST00000700003.1:c.1461_1471dup (MSH6)	ENSP00000514751.1:n.1461_1471dup
ENST00000700004.1:c.2779_2789dup (MSH6)	ENSP00000514752.1:p.Ser931PhefsTer10
ENST00000700005.1:n.2984_2994dup (MSH6)
ENST00000700007.1:n.2601_2611dup (MSH6)
ENST00000700008.1:n.2268_2278dup (MSH6)
ENST00000700009.1:n.2670_2680dup (MSH6)
ENST00000700010.1:n.1415_1425dup (MSH6)
ENST00000700011.1:n.3300_3310dup (MSH6)
ENST00000682451.1:n.3955_3965dup (FBXO11)
ENST00000684712.1:n.4217_4227dup (FBXO11)
ENST00000234420.11:c.4006_4016dup (MSH6) MANE Select	ENSP00000234420.5:p.Ser1340PhefsTer10
ENST00000540021.6:c.3616_3626dup (MSH6)	ENSP00000446475.1:p.Ser1210PhefsTer10
ENST00000652107.1:c.3709_3719dup (MSH6)	ENSP00000498629.1:p.Ser1241PhefsTer10
ENST00000673637.1:c.3709_3719dup (MSH6)	ENSP00000501310.1:p.Ser1241PhefsTer10
ENST00000234420.9:c.4006_4016dup (MSH6)	ENSP00000234420.4:p.Ser1340PhefsTer10
ENST00000405808.5:c.169+1402_169+1412dup (FBXO11)	ENSP00000385127.1:n.169+1402_169+1412dup
ENST00000434234.5:c.*124+1201_*124+1211dup (FBXO11)	ENSP00000402692.1:n.*124+1201_*124+1211dup
ENST00000445503.5:c.*3353_*3363dup (MSH6)	ENSP00000405294.1:n.*3353_*3363dup
ENST00000465204.5:n.3117_3127dup (FBXO11)
ENST00000538136.1:c.3100_3110dup (MSH6)	ENSP00000438580.1:p.Ser1038PhefsTer10
ENST00000540021.5:c.3616_3626dup (MSH6)	ENSP00000446475.1:p.Ser1210PhefsTer10
ENST00000614496.4:c.3100_3110dup (MSH6)	ENSP00000477844.1:p.Ser1038PhefsTer10
ENST00000622629.4:c.907_917dup (MSH6)	ENSP00000482078.1:p.Ser307PhefsTer10
NM_000179.2:c.4006_4016dup , LRG_219t1:c.4006_4016dup (MSH6)	NP_000170.1:p.Ser1340PhefsTer10
NM_001281492.1:c.3616_3626dup (MSH6)	NP_001268421.1:p.Ser1210PhefsTer10
NM_001281493.1:c.3100_3110dup (MSH6)	NP_001268422.1:p.Ser1038PhefsTer10
NM_001281494.1:c.3100_3110dup (MSH6)	NP_001268423.1:p.Ser1038PhefsTer10
XM_005264271.1:c.3709_3719dup (MSH6)	XP_005264328.1:p.Ser1241PhefsTer10
XM_011532798.1:c.3823_3833dup (MSH6)	XP_011531100.1:p.Ser1279PhefsTer10
XM_011532799.1:c.3709_3719dup (MSH6)	XP_011531101.1:p.Ser1241PhefsTer10
XM_011532800.1:c.3709_3719dup (MSH6)	XP_011531102.1:p.Ser1241PhefsTer10
XM_024452819.1:c.4099_4109dup (MSH6)	XP_024308587.1:p.Ser1371PhefsTer10
XM_024452820.1:c.3916_3926dup (MSH6)	XP_024308588.1:p.Ser1310PhefsTer10
XM_024452821.1:c.3802_3812dup (MSH6)	XP_024308589.1:p.Ser1272PhefsTer10
XM_024452822.1:c.3193_3203dup (MSH6)	XP_024308590.1:p.Ser1069PhefsTer10
NM_000179.3:c.4006_4016dup (MSH6) MANE Select	NP_000170.1:p.Ser1340PhefsTer10
NM_001281492.2:c.3616_3626dup (MSH6)	NP_001268421.1:p.Ser1210PhefsTer10
NM_001281493.2:c.3100_3110dup (MSH6)	NP_001268422.1:p.Ser1038PhefsTer10
NM_001281494.2:c.3100_3110dup (MSH6)	NP_001268423.1:p.Ser1038PhefsTer10