Canonical Allele Identifier: CA913189358

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 619875
• ClinVar RCV Id: RCV000759864 ; RCV001021019 ; RCV003453561
• dbSNP Id: rs1558392265

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806299_47806302dup , CM000664.2:g.47806299_47806302dup	GRCh38
NC_000002.11:g.48033438_48033441dup , CM000664.1:g.48033438_48033441dup	GRCh37
NC_000002.10:g.47886942_47886945dup	NCBI36
NG_007111.1:g.28153_28156dup , LRG_219:g.28153_28156dup
NG_008397.1:g.104377_104380dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3445_3448dup (MSH6)	ENSP00000406248.2:p.Tyr1150SerfsTer27
ENST00000420813.6:c.3445_3448dup (MSH6)	ENSP00000390382.2:p.Tyr1150SerfsTer27
ENST00000455383.6:c.3445_3448dup (MSH6)	ENSP00000397484.2:p.Tyr1150SerfsTer27
ENST00000700004.2:c.3358_3361dup (MSH6)	ENSP00000514752.2:p.Tyr1121SerfsTer27
ENST00000699999.1:n.4416_4419dup (MSH6)
ENST00000700000.1:c.2176_2179dup (MSH6)	ENSP00000514749.1:p.Tyr727SerfsTer27
ENST00000700002.1:c.3748_3751dup (MSH6)	ENSP00000514750.1:p.Tyr1251SerfsTer27
ENST00000700003.1:c.1197_1200dup (MSH6)	ENSP00000514751.1:n.1197_1200dup
ENST00000700004.1:c.2515_2518dup (MSH6)	ENSP00000514752.1:p.Tyr840SerfsTer27
ENST00000700005.1:n.2593_2596dup (MSH6)
ENST00000700006.1:n.4900_4903dup (MSH6)
ENST00000700007.1:n.2337_2340dup (MSH6)
ENST00000700008.1:n.1911_1914dup (MSH6)
ENST00000700009.1:n.2406_2409dup (MSH6)
ENST00000700010.1:n.1151_1154dup (MSH6)
ENST00000700011.1:n.3036_3039dup (MSH6)
ENST00000682451.1:n.4449_4452dup (FBXO11)
ENST00000684712.1:n.4711_4714dup (FBXO11)
ENST00000234420.11:c.3742_3745dup (MSH6) MANE Select	ENSP00000234420.5:p.Tyr1249SerfsTer27
ENST00000540021.6:c.3352_3355dup (MSH6)	ENSP00000446475.1:p.Tyr1119SerfsTer27
ENST00000652107.1:c.3445_3448dup (MSH6)	ENSP00000498629.1:p.Tyr1150SerfsTer27
ENST00000673637.1:c.3445_3448dup (MSH6)	ENSP00000501310.1:p.Tyr1150SerfsTer27
ENST00000234420.9:c.3742_3745dup (MSH6)	ENSP00000234420.4:p.Tyr1249SerfsTer27
ENST00000405808.5:c.169+1896_169+1899dup (FBXO11)	ENSP00000385127.1:n.169+1896_169+1899dup
ENST00000434234.5:c.*124+1695_*124+1698dup (FBXO11)	ENSP00000402692.1:n.*124+1695_*124+1698dup
ENST00000445503.5:c.*3089_*3092dup (MSH6)	ENSP00000405294.1:n.*3089_*3092dup
ENST00000538136.1:c.2836_2839dup (MSH6)	ENSP00000438580.1:p.Tyr947SerfsTer27
ENST00000540021.5:c.3352_3355dup (MSH6)	ENSP00000446475.1:p.Tyr1119SerfsTer27
ENST00000614496.4:c.2836_2839dup (MSH6)	ENSP00000477844.1:p.Tyr947SerfsTer27
ENST00000622629.4:c.646_649dup (MSH6)	ENSP00000482078.1:p.Tyr217SerfsTer5
NM_000179.2:c.3742_3745dup , LRG_219t1:c.3742_3745dup (MSH6)	NP_000170.1:p.Tyr1249SerfsTer27
NM_001281492.1:c.3352_3355dup (MSH6)	NP_001268421.1:p.Tyr1119SerfsTer27
NM_001281493.1:c.2836_2839dup (MSH6)	NP_001268422.1:p.Tyr947SerfsTer27
NM_001281494.1:c.2836_2839dup (MSH6)	NP_001268423.1:p.Tyr947SerfsTer27
XM_005264271.1:c.3445_3448dup (MSH6)	XP_005264328.1:p.Tyr1150SerfsTer27
XM_011532798.1:c.3559_3562dup (MSH6)	XP_011531100.1:p.Tyr1188SerfsTer27
XM_011532799.1:c.3445_3448dup (MSH6)	XP_011531101.1:p.Tyr1150SerfsTer27
XM_011532800.1:c.3445_3448dup (MSH6)	XP_011531102.1:p.Tyr1150SerfsTer27
XM_024452819.1:c.3742_3745dup (MSH6)	XP_024308587.1:p.Tyr1249SerfsTer?
XM_024452820.1:c.3559_3562dup (MSH6)	XP_024308588.1:p.Tyr1188SerfsTer?
XM_024452821.1:c.3445_3448dup (MSH6)	XP_024308589.1:p.Tyr1150SerfsTer?
XM_024452822.1:c.2836_2839dup (MSH6)	XP_024308590.1:p.Tyr947SerfsTer?
NM_000179.3:c.3742_3745dup (MSH6) MANE Select	NP_000170.1:p.Tyr1249SerfsTer27
NM_001281492.2:c.3352_3355dup (MSH6)	NP_001268421.1:p.Tyr1119SerfsTer27
NM_001281493.2:c.2836_2839dup (MSH6)	NP_001268422.1:p.Tyr947SerfsTer27
NM_001281494.2:c.2836_2839dup (MSH6)	NP_001268423.1:p.Tyr947SerfsTer27