Canonical Allele Identifier: CA013845

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89448
• ClinVar RCV Id: RCV000221540 ; RCV000567987 ; RCV000704903 ; RCV001355382
• dbSNP Id: rs587779284
• ExAC: 2:48033386 AGTT / A
• MyVariant Identifiers: chr2:g.48033390_48033392del (hg19) ; chr2:g.48033387_48033389del (hg19) ; chr2:g.47806251_47806253del (hg38) ; chr2:g.47806248_47806250del (hg38)
• PubMed: PMID:24323032

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806251_47806253del , CM000664.2:g.47806251_47806253del	GRCh38
NC_000002.11:g.48033390_48033392del , CM000664.1:g.48033390_48033392del	GRCh37
NC_000002.10:g.47886894_47886896del	NCBI36
NG_007111.1:g.28105_28107del , LRG_219:g.28105_28107del
NG_008397.1:g.104426_104428del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3397_3399del (MSH6)	ENSP00000406248.2:p.Val1133del
ENST00000420813.6:c.3397_3399del (MSH6)	ENSP00000390382.2:p.Val1133del
ENST00000455383.6:c.3397_3399del (MSH6)	ENSP00000397484.2:p.Val1133del
ENST00000700004.2:c.3310_3312del (MSH6)	ENSP00000514752.2:p.Val1104del
ENST00000699999.1:n.4368_4370del (MSH6)
ENST00000700000.1:c.2128_2130del (MSH6)	ENSP00000514749.1:p.Val710del
ENST00000700002.1:c.3700_3702del (MSH6)	ENSP00000514750.1:p.Val1234del
ENST00000700003.1:c.1149_1151del (MSH6)	ENSP00000514751.1:n.1149_1151del
ENST00000700004.1:c.2467_2469del (MSH6)	ENSP00000514752.1:p.Val823del
ENST00000700005.1:n.2545_2547del (MSH6)
ENST00000700006.1:n.4852_4854del (MSH6)
ENST00000700007.1:n.2289_2291del (MSH6)
ENST00000700008.1:n.1863_1865del (MSH6)
ENST00000700009.1:n.2358_2360del (MSH6)
ENST00000700010.1:n.1103_1105del (MSH6)
ENST00000700011.1:n.2988_2990del (MSH6)
ENST00000682451.1:n.4498_4500del (FBXO11)
ENST00000684712.1:n.4760_4762del (FBXO11)
ENST00000234420.11:c.3694_3696del (MSH6) MANE Select	ENSP00000234420.5:p.Val1232del
ENST00000540021.6:c.3304_3306del (MSH6)	ENSP00000446475.1:p.Val1102del
ENST00000652107.1:c.3397_3399del (MSH6)	ENSP00000498629.1:p.Val1133del
ENST00000673637.1:c.3397_3399del (MSH6)	ENSP00000501310.1:p.Val1133del
ENST00000234420.9:c.3694_3696del (MSH6)	ENSP00000234420.4:p.Val1232del
ENST00000405808.5:c.169+1945_169+1947del (FBXO11)	ENSP00000385127.1:n.169+1945_169+1947del
ENST00000434234.5:c.*124+1744_*124+1746del (FBXO11)	ENSP00000402692.1:n.*124+1744_*124+1746de...
ENST00000445503.5:c.*3041_*3043del (MSH6)	ENSP00000405294.1:n.*3041_*3043del
ENST00000538136.1:c.2788_2790del (MSH6)	ENSP00000438580.1:p.Val930del
ENST00000540021.5:c.3304_3306del (MSH6)	ENSP00000446475.1:p.Val1102del
ENST00000614496.4:c.2788_2790del (MSH6)	ENSP00000477844.1:p.Val930del
ENST00000622629.4:c.598_600del (MSH6)	ENSP00000482078.1:p.Val200del
NM_000179.2:c.3694_3696del , LRG_219t1:c.3694_3696del (MSH6)	NP_000170.1:p.Val1232del
NM_001281492.1:c.3304_3306del (MSH6)	NP_001268421.1:p.Val1102del
NM_001281493.1:c.2788_2790del (MSH6)	NP_001268422.1:p.Val930del
NM_001281494.1:c.2788_2790del (MSH6)	NP_001268423.1:p.Val930del
XM_005264271.1:c.3397_3399del (MSH6)	XP_005264328.1:p.Val1133del
XM_011532798.1:c.3511_3513del (MSH6)	XP_011531100.1:p.Val1171del
XM_011532799.1:c.3397_3399del (MSH6)	XP_011531101.1:p.Val1133del
XM_011532800.1:c.3397_3399del (MSH6)	XP_011531102.1:p.Val1133del
XM_024452819.1:c.3694_3696del (MSH6)	XP_024308587.1:p.Val1232del
XM_024452820.1:c.3511_3513del (MSH6)	XP_024308588.1:p.Val1171del
XM_024452821.1:c.3397_3399del (MSH6)	XP_024308589.1:p.Val1133del
XM_024452822.1:c.2788_2790del (MSH6)	XP_024308590.1:p.Val930del
NM_000179.3:c.3694_3696del (MSH6) MANE Select	NP_000170.1:p.Val1232del
NM_001281492.2:c.3304_3306del (MSH6)	NP_001268421.1:p.Val1102del
NM_001281493.2:c.2788_2790del (MSH6)	NP_001268422.1:p.Val930del
NM_001281494.2:c.2788_2790del (MSH6)	NP_001268423.1:p.Val930del