Canonical Allele Identifier: CA2580067522

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1736577
• ClinVar RCV Id: RCV002375473
• gnomAD v4: 2-47806618-T-TTGAGAAGATGAATC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806619_47806632dup , CM000664.2:g.47806619_47806632dup	GRCh38
NC_000002.11:g.48033758_48033771dup , CM000664.1:g.48033758_48033771dup	GRCh37
NC_000002.10:g.47887262_47887275dup	NCBI36
NG_007111.1:g.28473_28486dup , LRG_219:g.28473_28486dup
NG_008397.1:g.104044_104057dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3672_3685dup (MSH6)	ENSP00000406248.2:p.Gln1229LeufsTer4
ENST00000420813.6:c.3672_3685dup (MSH6)	ENSP00000390382.2:p.Gln1229LeufsTer4
ENST00000455383.6:c.3672_3685dup (MSH6)	ENSP00000397484.2:p.Gln1229LeufsTer4
ENST00000700004.2:c.3585_3598dup (MSH6)	ENSP00000514752.2:p.Gln1200LeufsTer4
ENST00000699999.1:n.4643_4656dup (MSH6)
ENST00000700000.1:c.2403_2416dup (MSH6)	ENSP00000514749.1:p.Gln806LeufsTer4
ENST00000700002.1:c.3975_3988dup (MSH6)	ENSP00000514750.1:p.Gln1330LeufsTer4
ENST00000700003.1:c.1424_1437dup (MSH6)	ENSP00000514751.1:n.1424_1437dup
ENST00000700004.1:c.2742_2755dup (MSH6)	ENSP00000514752.1:p.Gln919LeufsTer4
ENST00000700005.1:n.2820_2833dup (MSH6)
ENST00000700006.1:n.5127_5140dup (MSH6)
ENST00000700007.1:n.2564_2577dup (MSH6)
ENST00000700008.1:n.2231_2244dup (MSH6)
ENST00000700009.1:n.2633_2646dup (MSH6)
ENST00000700010.1:n.1378_1391dup (MSH6)
ENST00000700011.1:n.3263_3276dup (MSH6)
ENST00000682451.1:n.4116_4129dup (FBXO11)
ENST00000684712.1:n.4378_4391dup (FBXO11)
ENST00000234420.11:c.3969_3982dup (MSH6) MANE Select	ENSP00000234420.5:p.Gln1328LeufsTer4
ENST00000540021.6:c.3579_3592dup (MSH6)	ENSP00000446475.1:p.Gln1198LeufsTer4
ENST00000652107.1:c.3672_3685dup (MSH6)	ENSP00000498629.1:p.Gln1229LeufsTer4
ENST00000673637.1:c.3672_3685dup (MSH6)	ENSP00000501310.1:p.Gln1229LeufsTer4
ENST00000234420.9:c.3969_3982dup (MSH6)	ENSP00000234420.4:p.Gln1328LeufsTer4
ENST00000405808.5:c.169+1563_169+1576dup (FBXO11)	ENSP00000385127.1:n.169+1563_169+1576dup
ENST00000434234.5:c.*124+1362_*124+1375dup (FBXO11)	ENSP00000402692.1:n.*124+1362_*124+1375dup
ENST00000445503.5:c.*3316_*3329dup (MSH6)	ENSP00000405294.1:n.*3316_*3329dup
ENST00000538136.1:c.3063_3076dup (MSH6)	ENSP00000438580.1:p.Gln1026LeufsTer4
ENST00000540021.5:c.3579_3592dup (MSH6)	ENSP00000446475.1:p.Gln1198LeufsTer4
ENST00000614496.4:c.3063_3076dup (MSH6)	ENSP00000477844.1:p.Gln1026LeufsTer4
ENST00000622629.4:c.870_883dup (MSH6)	ENSP00000482078.1:p.Gln295LeufsTer4
NM_000179.2:c.3969_3982dup , LRG_219t1:c.3969_3982dup (MSH6)	NP_000170.1:p.Gln1328LeufsTer4
NM_001281492.1:c.3579_3592dup (MSH6)	NP_001268421.1:p.Gln1198LeufsTer4
NM_001281493.1:c.3063_3076dup (MSH6)	NP_001268422.1:p.Gln1026LeufsTer4
NM_001281494.1:c.3063_3076dup (MSH6)	NP_001268423.1:p.Gln1026LeufsTer4
XM_005264271.1:c.3672_3685dup (MSH6)	XP_005264328.1:p.Gln1229LeufsTer4
XM_011532798.1:c.3786_3799dup (MSH6)	XP_011531100.1:p.Gln1267LeufsTer4
XM_011532799.1:c.3672_3685dup (MSH6)	XP_011531101.1:p.Gln1229LeufsTer4
XM_011532800.1:c.3672_3685dup (MSH6)	XP_011531102.1:p.Gln1229LeufsTer4
XM_024452819.1:c.4062_4075dup (MSH6)	XP_024308587.1:p.Gln1359LeufsTer4
XM_024452820.1:c.3879_3892dup (MSH6)	XP_024308588.1:p.Gln1298LeufsTer4
XM_024452821.1:c.3765_3778dup (MSH6)	XP_024308589.1:p.Gln1260LeufsTer4
XM_024452822.1:c.3156_3169dup (MSH6)	XP_024308590.1:p.Gln1057LeufsTer4
NM_000179.3:c.3969_3982dup (MSH6) MANE Select	NP_000170.1:p.Gln1328LeufsTer4
NM_001281492.2:c.3579_3592dup (MSH6)	NP_001268421.1:p.Gln1198LeufsTer4
NM_001281493.2:c.3063_3076dup (MSH6)	NP_001268422.1:p.Gln1026LeufsTer4
NM_001281494.2:c.3063_3076dup (MSH6)	NP_001268423.1:p.Gln1026LeufsTer4