Canonical Allele Identifier: CA16617715

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 418610
• ClinVar RCV Id: RCV000486034 ; RCV000491551 ; RCV000629708 ; RCV000825625 ; RCV001356471 ; RCV003449172
• dbSNP Id: rs760190301
• gnomAD v4: 2-47806582-A-AAGTT
• MyVariant Identifiers: chr2:g.48033723_48033726dupGTTA (hg19) ; chr2:g.48033726_48033727insGTTA (hg19) ; chr2:g.47806584_47806587dupGTTA (hg38) ; chr2:g.47806587_47806588insGTTA (hg38)
• PubMed: PMID:18625694 ; PMID:25980754 ; PMID:26681312 ; PMID:28369758

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806584_47806587dup , CM000664.2:g.47806584_47806587dup	GRCh38
NC_000002.11:g.48033723_48033726dup , CM000664.1:g.48033723_48033726dup	GRCh37
NC_000002.10:g.47887227_47887230dup	NCBI36
NG_007111.1:g.28438_28441dup , LRG_219:g.28438_28441dup
NG_008397.1:g.104090_104093dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3637_3640dup (MSH6)	ENSP00000406248.2:p.Ile1214SerfsTer7
ENST00000420813.6:c.3637_3640dup (MSH6)	ENSP00000390382.2:p.Ile1214SerfsTer7
ENST00000455383.6:c.3637_3640dup (MSH6)	ENSP00000397484.2:p.Ile1214SerfsTer7
ENST00000700004.2:c.3550_3553dup (MSH6)	ENSP00000514752.2:p.Ile1185SerfsTer7
ENST00000699999.1:n.4608_4611dup (MSH6)
ENST00000700000.1:c.2368_2371dup (MSH6)	ENSP00000514749.1:p.Ile791SerfsTer7
ENST00000700002.1:c.3940_3943dup (MSH6)	ENSP00000514750.1:p.Ile1315SerfsTer7
ENST00000700003.1:c.1389_1392dup (MSH6)	ENSP00000514751.1:n.1389_1392dup
ENST00000700004.1:c.2707_2710dup (MSH6)	ENSP00000514752.1:p.Ile904SerfsTer7
ENST00000700005.1:n.2785_2788dup (MSH6)
ENST00000700006.1:n.5092_5095dup (MSH6)
ENST00000700007.1:n.2529_2532dup (MSH6)
ENST00000700008.1:n.2196_2199dup (MSH6)
ENST00000700009.1:n.2598_2601dup (MSH6)
ENST00000700010.1:n.1343_1346dup (MSH6)
ENST00000700011.1:n.3228_3231dup (MSH6)
ENST00000682451.1:n.4162_4165dup (FBXO11)
ENST00000684712.1:n.4424_4427dup (FBXO11)
ENST00000234420.11:c.3934_3937dup (MSH6) MANE Select	ENSP00000234420.5:p.Ile1313SerfsTer7
ENST00000540021.6:c.3544_3547dup (MSH6)	ENSP00000446475.1:p.Ile1183SerfsTer7
ENST00000652107.1:c.3637_3640dup (MSH6)	ENSP00000498629.1:p.Ile1214SerfsTer7
ENST00000673637.1:c.3637_3640dup (MSH6)	ENSP00000501310.1:p.Ile1214SerfsTer7
ENST00000234420.9:c.3934_3937dup (MSH6)	ENSP00000234420.4:p.Ile1313SerfsTer7
ENST00000405808.5:c.169+1609_169+1612dup (FBXO11)	ENSP00000385127.1:n.169+1609_169+1612dup
ENST00000434234.5:c.*124+1408_*124+1411dup (FBXO11)	ENSP00000402692.1:n.*124+1408_*124+1411dup
ENST00000445503.5:c.*3281_*3284dup (MSH6)	ENSP00000405294.1:n.*3281_*3284dup
ENST00000538136.1:c.3028_3031dup (MSH6)	ENSP00000438580.1:p.Ile1011SerfsTer7
ENST00000540021.5:c.3544_3547dup (MSH6)	ENSP00000446475.1:p.Ile1183SerfsTer7
ENST00000614496.4:c.3028_3031dup (MSH6)	ENSP00000477844.1:p.Ile1011SerfsTer7
ENST00000622629.4:c.835_838dup (MSH6)	ENSP00000482078.1:p.Ile280SerfsTer7
NM_000179.2:c.3934_3937dup , LRG_219t1:c.3934_3937dup (MSH6)	NP_000170.1:p.Ile1313SerfsTer7
NM_001281492.1:c.3544_3547dup (MSH6)	NP_001268421.1:p.Ile1183SerfsTer7
NM_001281493.1:c.3028_3031dup (MSH6)	NP_001268422.1:p.Ile1011SerfsTer7
NM_001281494.1:c.3028_3031dup (MSH6)	NP_001268423.1:p.Ile1011SerfsTer7
XM_005264271.1:c.3637_3640dup (MSH6)	XP_005264328.1:p.Ile1214SerfsTer7
XM_011532798.1:c.3751_3754dup (MSH6)	XP_011531100.1:p.Ile1252SerfsTer7
XM_011532799.1:c.3637_3640dup (MSH6)	XP_011531101.1:p.Ile1214SerfsTer7
XM_011532800.1:c.3637_3640dup (MSH6)	XP_011531102.1:p.Ile1214SerfsTer7
XM_024452819.1:c.4027_4030dup (MSH6)	XP_024308587.1:p.Ile1344SerfsTer7
XM_024452820.1:c.3844_3847dup (MSH6)	XP_024308588.1:p.Ile1283SerfsTer7
XM_024452821.1:c.3730_3733dup (MSH6)	XP_024308589.1:p.Ile1245SerfsTer7
XM_024452822.1:c.3121_3124dup (MSH6)	XP_024308590.1:p.Ile1042SerfsTer7
NM_000179.3:c.3934_3937dup (MSH6) MANE Select	NP_000170.1:p.Ile1313SerfsTer7
NM_001281492.2:c.3544_3547dup (MSH6)	NP_001268421.1:p.Ile1183SerfsTer7
NM_001281493.2:c.3028_3031dup (MSH6)	NP_001268422.1:p.Ile1011SerfsTer7
NM_001281494.2:c.3028_3031dup (MSH6)	NP_001268423.1:p.Ile1011SerfsTer7