Canonical Allele Identifier: CA532354412

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs1472954352
• gnomAD v2: 2-48034003-G-GACTACATTGGAAGCT
• gnomAD v4: 2-47806864-G-GACTACATTGGAAGCT
• MyVariant Identifiers: chr2:g.48034003_48034004insACTACATTGGAAGCT (hg19) ; chr2:g.47806864_47806865insACTACATTGGAAGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806865_47806879dup , CM000664.2:g.47806865_47806879dup	GRCh38
NC_000002.11:g.48034004_48034018dup , CM000664.1:g.48034004_48034018dup	GRCh37
NC_000002.10:g.47887508_47887522dup	NCBI36
NG_007111.1:g.28719_28733dup , LRG_219:g.28719_28733dup
NG_008397.1:g.103797_103811dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.*5_*19dup (MSH6)	ENSP00000406248.2:n.*5_*19dup
ENST00000420813.6:c.*5_*19dup (MSH6)	ENSP00000390382.2:n.*5_*19dup
ENST00000455383.6:c.*5_*19dup (MSH6)	ENSP00000397484.2:n.*5_*19dup
ENST00000700004.2:c.*5_*19dup (MSH6)	ENSP00000514752.2:n.*5_*19dup
ENST00000699999.1:n.4762_4776dup (MSH6)
ENST00000700000.1:c.*5_*19dup (MSH6)	ENSP00000514749.1:n.*5_*19dup
ENST00000700002.1:c.*5_*19dup (MSH6)	ENSP00000514750.1:n.*5_*19dup
ENST00000700003.1:c.1543_1557dup (MSH6)	ENSP00000514751.1:n.1543_1557dup
ENST00000700004.1:c.2861_2875dup (MSH6)	ENSP00000514752.1:n.2861_2875dup
ENST00000700007.1:n.2683_2697dup (MSH6)
ENST00000700008.1:n.2350_2364dup (MSH6)
ENST00000700009.1:n.2752_2766dup (MSH6)
ENST00000700010.1:n.1497_1511dup (MSH6)
ENST00000700011.1:n.3382_3396dup (MSH6)
ENST00000682451.1:n.3869_3883dup (FBXO11)
ENST00000684712.1:n.4131_4145dup (FBXO11)
ENST00000234420.11:c.*5_*19dup (MSH6) MANE Select	ENSP00000234420.5:n.*5_*19dup
ENST00000540021.6:c.*5_*19dup (MSH6)	ENSP00000446475.1:n.*5_*19dup
ENST00000652107.1:c.*5_*19dup (MSH6)	ENSP00000498629.1:n.*5_*19dup
ENST00000673637.1:c.*5_*19dup (MSH6)	ENSP00000501310.1:n.*5_*19dup
ENST00000234420.9:c.*5_*19dup (MSH6)	ENSP00000234420.4:n.*5_*19dup
ENST00000405808.5:c.169+1316_169+1330dup (FBXO11)	ENSP00000385127.1:n.169+1316_169+1330dup
ENST00000434234.5:c.*124+1115_*124+1129dup (FBXO11)	ENSP00000402692.1:n.*124+1115_*124+1129dup
ENST00000445503.5:c.*3435_*3449dup (MSH6)	ENSP00000405294.1:n.*3435_*3449dup
ENST00000465204.5:n.3031_3045dup (FBXO11)
ENST00000538136.1:c.*5_*19dup (MSH6)	ENSP00000438580.1:n.*5_*19dup
ENST00000540021.5:c.*5_*19dup (MSH6)	ENSP00000446475.1:n.*5_*19dup
ENST00000614496.4:c.*5_*19dup (MSH6)	ENSP00000477844.1:n.*5_*19dup
ENST00000622629.4:c.*5_*19dup (MSH6)	ENSP00000482078.1:n.*5_*19dup
NM_000179.2:c.*5_*19dup , LRG_219t1:c.*5_*19dup (MSH6)	NP_000170.1:n.*5_*19dup
NM_001281492.1:c.*5_*19dup (MSH6)	NP_001268421.1:n.*5_*19dup
NM_001281493.1:c.*5_*19dup (MSH6)	NP_001268422.1:n.*5_*19dup
NM_001281494.1:c.*5_*19dup (MSH6)	NP_001268423.1:n.*5_*19dup
XM_005264271.1:c.*5_*19dup (MSH6)	XP_005264328.1:n.*5_*19dup
XM_011532798.1:c.*5_*19dup (MSH6)	XP_011531100.1:n.*5_*19dup
XM_011532799.1:c.*5_*19dup (MSH6)	XP_011531101.1:n.*5_*19dup
XM_011532800.1:c.*5_*19dup (MSH6)	XP_011531102.1:n.*5_*19dup
XM_024452819.1:c.*5_*19dup (MSH6)	XP_024308587.1:n.*5_*19dup
XM_024452820.1:c.*5_*19dup (MSH6)	XP_024308588.1:n.*5_*19dup
XM_024452821.1:c.*5_*19dup (MSH6)	XP_024308589.1:n.*5_*19dup
XM_024452822.1:c.*5_*19dup (MSH6)	XP_024308590.1:n.*5_*19dup
NM_000179.3:c.*5_*19dup (MSH6) MANE Select	NP_000170.1:n.*5_*19dup
NM_001281492.2:c.*5_*19dup (MSH6)	NP_001268421.1:n.*5_*19dup
NM_001281493.2:c.*5_*19dup (MSH6)	NP_001268422.1:n.*5_*19dup
NM_001281494.2:c.*5_*19dup (MSH6)	NP_001268423.1:n.*5_*19dup