Canonical Allele Identifier: CA46720129

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 584625
• ClinVar RCV Id: RCV000708897
• dbSNP Id: rs926031657
• gnomAD v2: 2-48033831-T-TAAG
• gnomAD v4: 2-47806692-T-TAAG
• MyVariant Identifiers: chr2:g.48033832_48033834dupAAG (hg19) ; chr2:g.48033831_48033832insAAG (hg19) ; chr2:g.47806693_47806695dupAAG (hg38) ; chr2:g.47806692_47806693insAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806693_47806695dup , CM000664.2:g.47806693_47806695dup	GRCh38
NC_000002.11:g.48033832_48033834dup , CM000664.1:g.48033832_48033834dup	GRCh37
NC_000002.10:g.47887336_47887338dup	NCBI36
NG_007111.1:g.28547_28549dup , LRG_219:g.28547_28549dup
NG_008397.1:g.103981_103983dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3704+42_3704+44dup (MSH6)	ENSP00000406248.2:n.3704+42_3704+44dup
ENST00000420813.6:c.3704+42_3704+44dup (MSH6)	ENSP00000390382.2:n.3704+42_3704+44dup
ENST00000455383.6:c.3704+42_3704+44dup (MSH6)	ENSP00000397484.2:n.3704+42_3704+44dup
ENST00000700004.2:c.3617+42_3617+44dup (MSH6)	ENSP00000514752.2:n.3617+42_3617+44dup
ENST00000699999.1:n.4675+42_4675+44dup (MSH6)
ENST00000700000.1:c.2435+42_2435+44dup (MSH6)	ENSP00000514749.1:n.2435+42_2435+44dup
ENST00000700002.1:c.4007+42_4007+44dup (MSH6)	ENSP00000514750.1:n.4007+42_4007+44dup
ENST00000700003.1:c.1456+42_1456+44dup (MSH6)	ENSP00000514751.1:n.1456+42_1456+44dup
ENST00000700004.1:c.2774+42_2774+44dup (MSH6)	ENSP00000514752.1:n.2774+42_2774+44dup
ENST00000700005.1:n.2894_2896dup (MSH6)
ENST00000700006.1:n.5201_5203dup (MSH6)
ENST00000700007.1:n.2596+42_2596+44dup (MSH6)
ENST00000700008.1:n.2263+42_2263+44dup (MSH6)
ENST00000700009.1:n.2665+42_2665+44dup (MSH6)
ENST00000700010.1:n.1410+42_1410+44dup (MSH6)
ENST00000700011.1:n.3295+42_3295+44dup (MSH6)
ENST00000682451.1:n.4053_4055dup (FBXO11)
ENST00000684712.1:n.4315_4317dup (FBXO11)
ENST00000234420.11:c.4001+42_4001+44dup (MSH6) MANE Select	ENSP00000234420.5:n.4001+42_4001+44dup
ENST00000540021.6:c.3611+42_3611+44dup (MSH6)	ENSP00000446475.1:n.3611+42_3611+44dup
ENST00000652107.1:c.3704+42_3704+44dup (MSH6)	ENSP00000498629.1:n.3704+42_3704+44dup
ENST00000673637.1:c.3704+42_3704+44dup (MSH6)	ENSP00000501310.1:n.3704+42_3704+44dup
ENST00000234420.9:c.4001+42_4001+44dup (MSH6)	ENSP00000234420.4:n.4001+42_4001+44dup
ENST00000405808.5:c.169+1500_169+1502dup (FBXO11)	ENSP00000385127.1:n.169+1500_169+1502dup
ENST00000434234.5:c.*124+1299_*124+1301dup (FBXO11)	ENSP00000402692.1:n.*124+1299_*124+1301dup
ENST00000445503.5:c.*3348+42_*3348+44dup (MSH6)	ENSP00000405294.1:n.*3348+42_*3348+44dup
ENST00000538136.1:c.3095+42_3095+44dup (MSH6)	ENSP00000438580.1:n.3095+42_3095+44dup
ENST00000540021.5:c.3611+42_3611+44dup (MSH6)	ENSP00000446475.1:n.3611+42_3611+44dup
ENST00000614496.4:c.3095+42_3095+44dup (MSH6)	ENSP00000477844.1:n.3095+42_3095+44dup
ENST00000622629.4:c.902+42_902+44dup (MSH6)	ENSP00000482078.1:n.902+42_902+44dup
NM_000179.2:c.4001+42_4001+44dup , LRG_219t1:c.4001+42_4001+44dup (MSH6)	NP_000170.1:n.4001+42_4001+44dup
NM_001281492.1:c.3611+42_3611+44dup (MSH6)	NP_001268421.1:n.3611+42_3611+44dup
NM_001281493.1:c.3095+42_3095+44dup (MSH6)	NP_001268422.1:n.3095+42_3095+44dup
NM_001281494.1:c.3095+42_3095+44dup (MSH6)	NP_001268423.1:n.3095+42_3095+44dup
XM_005264271.1:c.3704+42_3704+44dup (MSH6)	XP_005264328.1:n.3704+42_3704+44dup
XM_011532798.1:c.3818+42_3818+44dup (MSH6)	XP_011531100.1:n.3818+42_3818+44dup
XM_011532799.1:c.3704+42_3704+44dup (MSH6)	XP_011531101.1:n.3704+42_3704+44dup
XM_011532800.1:c.3704+42_3704+44dup (MSH6)	XP_011531102.1:n.3704+42_3704+44dup
XM_024452819.1:c.4094+42_4094+44dup (MSH6)	XP_024308587.1:n.4094+42_4094+44dup
XM_024452820.1:c.3911+42_3911+44dup (MSH6)	XP_024308588.1:n.3911+42_3911+44dup
XM_024452821.1:c.3797+42_3797+44dup (MSH6)	XP_024308589.1:n.3797+42_3797+44dup
XM_024452822.1:c.3188+42_3188+44dup (MSH6)	XP_024308590.1:n.3188+42_3188+44dup
NM_000179.3:c.4001+42_4001+44dup (MSH6) MANE Select	NP_000170.1:n.4001+42_4001+44dup
NM_001281492.2:c.3611+42_3611+44dup (MSH6)	NP_001268421.1:n.3611+42_3611+44dup
NM_001281493.2:c.3095+42_3095+44dup (MSH6)	NP_001268422.1:n.3095+42_3095+44dup
NM_001281494.2:c.3095+42_3095+44dup (MSH6)	NP_001268423.1:n.3095+42_3095+44dup