Canonical Allele Identifier: CA532705593

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1006269
• ClinVar RCV Id: RCV001303283
• dbSNP Id: rs1289787991
• gnomAD v2: 2-48033988-A-AAGGAATTATAGACTGACTACATTGGAAGCTTTGAGTTGACTTCT
• gnomAD v3: 2-47806849-A-AAGGAATTATAGACTGACTACATTGGAAGCTTTGAGTTGACTTCT
• gnomAD v4: 2-47806849-A-AAGGAATTATAGACTGACTACATTGGAAGCTTTGAGTTGACTTCT
• MyVariant Identifiers: chr2:g.48033988_48033989insAGGAATTATAGACTGACTACATTGGAAGCTTTGAGTTGACTTCT (hg19) ; chr2:g.47806849_47806850insAGGAATTATAGACTGACTACATTGGAAGCTTTGAGTTGACTTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806850_47806893dup , CM000664.2:g.47806850_47806893dup	GRCh38
NC_000002.11:g.48033989_48034032dup , CM000664.1:g.48033989_48034032dup	GRCh37
NC_000002.10:g.47887493_47887536dup	NCBI36
NG_007111.1:g.28704_28747dup , LRG_219:g.28704_28747dup
NG_008397.1:g.103783_103826dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3776_*33dup (MSH6)	ENSP00000406248.2:n.3776_*33dup
ENST00000420813.6:c.3776_*33dup (MSH6)	ENSP00000390382.2:n.3776_*33dup
ENST00000455383.6:c.3776_*33dup (MSH6)	ENSP00000397484.2:n.3776_*33dup
ENST00000700004.2:c.3689_*33dup (MSH6)	ENSP00000514752.2:n.3689_*33dup
ENST00000699999.1:n.4747_4790dup (MSH6)
ENST00000700000.1:c.2507_*33dup (MSH6)	ENSP00000514749.1:n.2507_*33dup
ENST00000700002.1:c.4079_*33dup (MSH6)	ENSP00000514750.1:n.4079_*33dup
ENST00000700003.1:c.1528_1571dup (MSH6)	ENSP00000514751.1:n.1528_1571dup
ENST00000700004.1:c.2846_2889dup (MSH6)	ENSP00000514752.1:n.2846_2889dup
ENST00000700007.1:n.2668_2711dup (MSH6)
ENST00000700008.1:n.2335_2378dup (MSH6)
ENST00000700009.1:n.2737_2780dup (MSH6)
ENST00000700010.1:n.1482_1525dup (MSH6)
ENST00000700011.1:n.3367_3410dup (MSH6)
ENST00000682451.1:n.3855_3898dup (FBXO11)
ENST00000684712.1:n.4117_4160dup (FBXO11)
ENST00000234420.11:c.4073_*33dup (MSH6) MANE Select	ENSP00000234420.5:n.4073_*33dup
ENST00000540021.6:c.3683_*33dup (MSH6)	ENSP00000446475.1:n.3683_*33dup
ENST00000652107.1:c.3776_*33dup (MSH6)	ENSP00000498629.1:n.3776_*33dup
ENST00000673637.1:c.3776_*33dup (MSH6)	ENSP00000501310.1:n.3776_*33dup
ENST00000234420.9:c.4073_*33dup (MSH6)	ENSP00000234420.4:n.4073_*33dup
ENST00000405808.5:c.169+1302_169+1345dup (FBXO11)	ENSP00000385127.1:n.169+1302_169+1345dup
ENST00000434234.5:c.*124+1101_*124+1144dup (FBXO11)	ENSP00000402692.1:n.*124+1101_*124+1144du...
ENST00000445503.5:c.*3420_*3463dup (MSH6)	ENSP00000405294.1:n.*3420_*3463dup
ENST00000465204.5:n.3017_3060dup (FBXO11)
ENST00000538136.1:c.3167_*33dup (MSH6)	ENSP00000438580.1:n.3167_*33dup
ENST00000540021.5:c.3683_*33dup (MSH6)	ENSP00000446475.1:n.3683_*33dup
ENST00000614496.4:c.3167_*33dup (MSH6)	ENSP00000477844.1:n.3167_*33dup
ENST00000622629.4:c.974_*33dup (MSH6)	ENSP00000482078.1:n.974_*33dup
NM_000179.2:c.4073_*33dup , LRG_219t1:c.4073_*33dup (MSH6)	NP_000170.1:n.4073_*33dup
NM_001281492.1:c.3683_*33dup (MSH6)	NP_001268421.1:n.3683_*33dup
NM_001281493.1:c.3167_*33dup (MSH6)	NP_001268422.1:n.3167_*33dup
NM_001281494.1:c.3167_*33dup (MSH6)	NP_001268423.1:n.3167_*33dup
XM_005264271.1:c.3776_*33dup (MSH6)	XP_005264328.1:n.3776_*33dup
XM_011532798.1:c.3890_*33dup (MSH6)	XP_011531100.1:n.3890_*33dup
XM_011532799.1:c.3776_*33dup (MSH6)	XP_011531101.1:n.3776_*33dup
XM_011532800.1:c.3776_*33dup (MSH6)	XP_011531102.1:n.3776_*33dup
XM_024452819.1:c.4166_*33dup (MSH6)	XP_024308587.1:n.4166_*33dup
XM_024452820.1:c.3983_*33dup (MSH6)	XP_024308588.1:n.3983_*33dup
XM_024452821.1:c.3869_*33dup (MSH6)	XP_024308589.1:n.3869_*33dup
XM_024452822.1:c.3260_*33dup (MSH6)	XP_024308590.1:n.3260_*33dup
NM_000179.3:c.4073_*33dup (MSH6) MANE Select	NP_000170.1:n.4073_*33dup
NM_001281492.2:c.3683_*33dup (MSH6)	NP_001268421.1:n.3683_*33dup
NM_001281493.2:c.3167_*33dup (MSH6)	NP_001268422.1:n.3167_*33dup
NM_001281494.2:c.3167_*33dup (MSH6)	NP_001268423.1:n.3167_*33dup