Canonical Allele Identifier: CA2658970391

Gene: MSH6 FBXO11

Linked Data

• gnomAD v4: 2-47806792-G-GCTAGTGAAAGGTCAACTGTAGATGCTGAAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806793_47806823dup , CM000664.2:g.47806793_47806823dup	GRCh38
NC_000002.11:g.48033932_48033962dup , CM000664.1:g.48033932_48033962dup	GRCh37
NC_000002.10:g.47887436_47887466dup	NCBI36
NG_007111.1:g.28647_28677dup , LRG_219:g.28647_28677dup
NG_008397.1:g.103853_103883dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3719_3749dup (MSH6)	ENSP00000406248.2:p.Val1251Ter
ENST00000420813.6:c.3719_3749dup (MSH6)	ENSP00000390382.2:p.Val1251Ter
ENST00000455383.6:c.3719_3749dup (MSH6)	ENSP00000397484.2:p.Val1251Ter
ENST00000700004.2:c.3632_3662dup (MSH6)	ENSP00000514752.2:p.Val1222Ter
ENST00000699999.1:n.4690_4720dup (MSH6)
ENST00000700000.1:c.2450_2480dup (MSH6)	ENSP00000514749.1:p.Val828Ter
ENST00000700002.1:c.4022_4052dup (MSH6)	ENSP00000514750.1:p.Val1352Ter
ENST00000700003.1:c.1471_1501dup (MSH6)	ENSP00000514751.1:n.1471_1501dup
ENST00000700004.1:c.2789_2819dup (MSH6)	ENSP00000514752.1:p.Val941Ter
ENST00000700005.1:n.2994_3024dup (MSH6)
ENST00000700007.1:n.2611_2641dup (MSH6)
ENST00000700008.1:n.2278_2308dup (MSH6)
ENST00000700009.1:n.2680_2710dup (MSH6)
ENST00000700010.1:n.1425_1455dup (MSH6)
ENST00000700011.1:n.3310_3340dup (MSH6)
ENST00000682451.1:n.3925_3955dup (FBXO11)
ENST00000684712.1:n.4187_4217dup (FBXO11)
ENST00000234420.11:c.4016_4046dup (MSH6) MANE Select	ENSP00000234420.5:p.Val1350Ter
ENST00000540021.6:c.3626_3656dup (MSH6)	ENSP00000446475.1:p.Val1220Ter
ENST00000652107.1:c.3719_3749dup (MSH6)	ENSP00000498629.1:p.Val1251Ter
ENST00000673637.1:c.3719_3749dup (MSH6)	ENSP00000501310.1:p.Val1251Ter
ENST00000234420.9:c.4016_4046dup (MSH6)	ENSP00000234420.4:p.Val1350Ter
ENST00000405808.5:c.169+1372_169+1402dup (FBXO11)	ENSP00000385127.1:n.169+1372_169+1402dup
ENST00000434234.5:c.*124+1171_*124+1201dup (FBXO11)	ENSP00000402692.1:n.*124+1171_*124+1201dup
ENST00000445503.5:c.*3363_*3393dup (MSH6)	ENSP00000405294.1:n.*3363_*3393dup
ENST00000465204.5:n.3087_3117dup (FBXO11)
ENST00000538136.1:c.3110_3140dup (MSH6)	ENSP00000438580.1:p.Val1048Ter
ENST00000540021.5:c.3626_3656dup (MSH6)	ENSP00000446475.1:p.Val1220Ter
ENST00000614496.4:c.3110_3140dup (MSH6)	ENSP00000477844.1:p.Val1048Ter
ENST00000622629.4:c.917_947dup (MSH6)	ENSP00000482078.1:p.Val317Ter
NM_000179.2:c.4016_4046dup , LRG_219t1:c.4016_4046dup (MSH6)	NP_000170.1:p.Val1350Ter
NM_001281492.1:c.3626_3656dup (MSH6)	NP_001268421.1:p.Val1220Ter
NM_001281493.1:c.3110_3140dup (MSH6)	NP_001268422.1:p.Val1048Ter
NM_001281494.1:c.3110_3140dup (MSH6)	NP_001268423.1:p.Val1048Ter
XM_005264271.1:c.3719_3749dup (MSH6)	XP_005264328.1:p.Val1251Ter
XM_011532798.1:c.3833_3863dup (MSH6)	XP_011531100.1:p.Val1289Ter
XM_011532799.1:c.3719_3749dup (MSH6)	XP_011531101.1:p.Val1251Ter
XM_011532800.1:c.3719_3749dup (MSH6)	XP_011531102.1:p.Val1251Ter
XM_024452819.1:c.4109_4139dup (MSH6)	XP_024308587.1:p.Val1381Ter
XM_024452820.1:c.3926_3956dup (MSH6)	XP_024308588.1:p.Val1320Ter
XM_024452821.1:c.3812_3842dup (MSH6)	XP_024308589.1:p.Val1282Ter
XM_024452822.1:c.3203_3233dup (MSH6)	XP_024308590.1:p.Val1079Ter
NM_000179.3:c.4016_4046dup (MSH6) MANE Select	NP_000170.1:p.Val1350Ter
NM_001281492.2:c.3626_3656dup (MSH6)	NP_001268421.1:p.Val1220Ter
NM_001281493.2:c.3110_3140dup (MSH6)	NP_001268422.1:p.Val1048Ter
NM_001281494.2:c.3110_3140dup (MSH6)	NP_001268423.1:p.Val1048Ter