Canonical Allele Identifier: CA2580067830

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1789661
• ClinVar RCV Id: RCV002448163

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800310_47800319del , CM000664.2:g.47800310_47800319del	GRCh38
NC_000002.11:g.48027449_48027458del , CM000664.1:g.48027449_48027458del	GRCh37
NC_000002.10:g.47880953_47880962del	NCBI36
NG_007111.1:g.22164_22173del , LRG_219:g.22164_22173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2030_2039del (MSH6)	ENSP00000406248.2:p.Gln677LeufsTer14
ENST00000420813.6:c.2030_2039del (MSH6)	ENSP00000390382.2:p.Gln677LeufsTer14
ENST00000455383.6:c.2030_2039del (MSH6)	ENSP00000397484.2:p.Gln677LeufsTer14
ENST00000700004.2:c.2327_2336del (MSH6)	ENSP00000514752.2:p.Gln776LeufsTer14
ENST00000699999.1:n.2411_2420del (MSH6)
ENST00000700000.1:c.1606+721_1606+730del (MSH6)	ENSP00000514749.1:n.1606+721_1606+730del
ENST00000700002.1:c.2333_2342del (MSH6)	ENSP00000514750.1:p.Gln778LeufsTer14
ENST00000700003.1:c.628-3110_628-3101del (MSH6)	ENSP00000514751.1:n.628-3110_628-3101del
ENST00000700004.1:c.1484_1493del (MSH6)	ENSP00000514752.1:p.Gln495LeufsTer14
ENST00000234420.11:c.2327_2336del (MSH6) MANE Select	ENSP00000234420.5:p.Gln776LeufsTer14
ENST00000540021.6:c.1937_1946del (MSH6)	ENSP00000446475.1:p.Gln646LeufsTer14
ENST00000652107.1:c.2030_2039del (MSH6)	ENSP00000498629.1:p.Gln677LeufsTer14
ENST00000673637.1:c.2030_2039del (MSH6)	ENSP00000501310.1:p.Gln677LeufsTer14
ENST00000234420.9:c.2327_2336del (MSH6)	ENSP00000234420.4:p.Gln776LeufsTer14
ENST00000405808.5:c.169+7876_169+7885del (FBXO11)	ENSP00000385127.1:n.169+7876_169+7885del
ENST00000434234.5:c.*124+7675_*124+7684del (FBXO11)	ENSP00000402692.1:n.*124+7675_*124+7684del
ENST00000445503.5:c.*1674_*1683del (MSH6)	ENSP00000405294.1:n.*1674_*1683del
ENST00000538136.1:c.1421_1430del (MSH6)	ENSP00000438580.1:p.Gln474LeufsTer14
ENST00000540021.5:c.1937_1946del (MSH6)	ENSP00000446475.1:p.Gln646LeufsTer14
ENST00000614496.4:c.1421_1430del (MSH6)	ENSP00000477844.1:p.Gln474LeufsTer14
ENST00000616033.4:c.2324_2333del (MSH6)	ENSP00000480261.1:p.Gln775LeufsTer14
ENST00000622629.4:c.-770_-761del (MSH6)	ENSP00000482078.1:n.-770_-761del
NM_000179.2:c.2327_2336del , LRG_219t1:c.2327_2336del (MSH6)	NP_000170.1:p.Gln776LeufsTer14
NM_001281492.1:c.1937_1946del (MSH6)	NP_001268421.1:p.Gln646LeufsTer14
NM_001281493.1:c.1421_1430del (MSH6)	NP_001268422.1:p.Gln474LeufsTer14
NM_001281494.1:c.1421_1430del (MSH6)	NP_001268423.1:p.Gln474LeufsTer14
XM_005264271.1:c.2030_2039del (MSH6)	XP_005264328.1:p.Gln677LeufsTer14
XM_011532798.1:c.2144_2153del (MSH6)	XP_011531100.1:p.Gln715LeufsTer14
XM_011532799.1:c.2030_2039del (MSH6)	XP_011531101.1:p.Gln677LeufsTer14
XM_011532800.1:c.2030_2039del (MSH6)	XP_011531102.1:p.Gln677LeufsTer14
XM_024452819.1:c.2327_2336del (MSH6)	XP_024308587.1:p.Gln776LeufsTer14
XM_024452820.1:c.2144_2153del (MSH6)	XP_024308588.1:p.Gln715LeufsTer14
XM_024452821.1:c.2030_2039del (MSH6)	XP_024308589.1:p.Gln677LeufsTer14
XM_024452822.1:c.1421_1430del (MSH6)	XP_024308590.1:p.Gln474LeufsTer14
NM_000179.3:c.2327_2336del (MSH6) MANE Select	NP_000170.1:p.Gln776LeufsTer14
NM_001281492.2:c.1937_1946del (MSH6)	NP_001268421.1:p.Gln646LeufsTer14
NM_001281493.2:c.1421_1430del (MSH6)	NP_001268422.1:p.Gln474LeufsTer14
NM_001281494.2:c.1421_1430del (MSH6)	NP_001268423.1:p.Gln474LeufsTer14