Canonical Allele Identifier: CA658822269

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 545783
• ClinVar RCV Id: RCV000657316
• dbSNP Id: rs1553333377
• MyVariant Identifiers: chr2:g.48033625_48033638dup (hg19) ; chr2:g.47806486_47806499dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806486_47806499dup , CM000664.2:g.47806486_47806499dup	GRCh38
NC_000002.11:g.48033625_48033638dup , CM000664.1:g.48033625_48033638dup	GRCh37
NC_000002.10:g.47887129_47887142dup	NCBI36
NG_007111.1:g.28340_28353dup , LRG_219:g.28340_28353dup
NG_008397.1:g.104177_104190dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3539_3552dup (MSH6)	ENSP00000406248.2:p.Thr1185AlafsTer?
ENST00000420813.6:c.3539_3552dup (MSH6)	ENSP00000390382.2:p.Thr1185AlafsTer?
ENST00000455383.6:c.3539_3552dup (MSH6)	ENSP00000397484.2:p.Thr1185AlafsTer?
ENST00000700004.2:c.3452_3465dup (MSH6)	ENSP00000514752.2:p.Thr1156AlafsTer?
ENST00000699999.1:n.4510_4523dup (MSH6)
ENST00000700000.1:c.2270_2283dup (MSH6)	ENSP00000514749.1:p.Thr762AlafsTer?
ENST00000700002.1:c.3842_3855dup (MSH6)	ENSP00000514750.1:p.Thr1286AlafsTer?
ENST00000700003.1:c.1291_1304dup (MSH6)	ENSP00000514751.1:n.1291_1304dup
ENST00000700004.1:c.2609_2622dup (MSH6)	ENSP00000514752.1:p.Thr875AlafsTer?
ENST00000700005.1:n.2687_2700dup (MSH6)
ENST00000700006.1:n.4994_5007dup (MSH6)
ENST00000700007.1:n.2431_2444dup (MSH6)
ENST00000700008.1:n.2098_2111dup (MSH6)
ENST00000700009.1:n.2500_2513dup (MSH6)
ENST00000700010.1:n.1245_1258dup (MSH6)
ENST00000700011.1:n.3130_3143dup (MSH6)
ENST00000682451.1:n.4249_4262dup (FBXO11)
ENST00000684712.1:n.4511_4524dup (FBXO11)
ENST00000234420.11:c.3836_3849dup (MSH6) MANE Select	ENSP00000234420.5:p.Thr1284AlafsTer?
ENST00000540021.6:c.3446_3459dup (MSH6)	ENSP00000446475.1:p.Thr1154AlafsTer?
ENST00000652107.1:c.3539_3552dup (MSH6)	ENSP00000498629.1:p.Thr1185AlafsTer?
ENST00000673637.1:c.3539_3552dup (MSH6)	ENSP00000501310.1:p.Thr1185AlafsTer?
ENST00000234420.9:c.3836_3849dup (MSH6)	ENSP00000234420.4:p.Thr1284AlafsTer?
ENST00000405808.5:c.169+1696_169+1709dup (FBXO11)	ENSP00000385127.1:n.169+1696_169+1709dup
ENST00000434234.5:c.*124+1495_*124+1508dup (FBXO11)	ENSP00000402692.1:n.*124+1495_*124+1508dup
ENST00000445503.5:c.*3183_*3196dup (MSH6)	ENSP00000405294.1:n.*3183_*3196dup
ENST00000538136.1:c.2930_2943dup (MSH6)	ENSP00000438580.1:p.Thr982AlafsTer?
ENST00000540021.5:c.3446_3459dup (MSH6)	ENSP00000446475.1:p.Thr1154AlafsTer?
ENST00000614496.4:c.2930_2943dup (MSH6)	ENSP00000477844.1:p.Thr982AlafsTer?
ENST00000622629.4:c.737_750dup (MSH6)	ENSP00000482078.1:p.Thr251AlafsTer?
NM_000179.2:c.3836_3849dup , LRG_219t1:c.3836_3849dup (MSH6)	NP_000170.1:p.Thr1284AlafsTer?
NM_001281492.1:c.3446_3459dup (MSH6)	NP_001268421.1:p.Thr1154AlafsTer?
NM_001281493.1:c.2930_2943dup (MSH6)	NP_001268422.1:p.Thr982AlafsTer?
NM_001281494.1:c.2930_2943dup (MSH6)	NP_001268423.1:p.Thr982AlafsTer?
XM_005264271.1:c.3539_3552dup (MSH6)	XP_005264328.1:p.Thr1185AlafsTer?
XM_011532798.1:c.3653_3666dup (MSH6)	XP_011531100.1:p.Thr1223AlafsTer?
XM_011532799.1:c.3539_3552dup (MSH6)	XP_011531101.1:p.Thr1185AlafsTer?
XM_011532800.1:c.3539_3552dup (MSH6)	XP_011531102.1:p.Thr1185AlafsTer?
XM_024452819.1:c.3929_3942dup (MSH6)	XP_024308587.1:p.Thr1315AlafsTer?
XM_024452820.1:c.3746_3759dup (MSH6)	XP_024308588.1:p.Thr1254AlafsTer?
XM_024452821.1:c.3632_3645dup (MSH6)	XP_024308589.1:p.Thr1216AlafsTer?
XM_024452822.1:c.3023_3036dup (MSH6)	XP_024308590.1:p.Thr1013AlafsTer?
NM_000179.3:c.3836_3849dup (MSH6) MANE Select	NP_000170.1:p.Thr1284AlafsTer?
NM_001281492.2:c.3446_3459dup (MSH6)	NP_001268421.1:p.Thr1154AlafsTer?
NM_001281493.2:c.2930_2943dup (MSH6)	NP_001268422.1:p.Thr982AlafsTer?
NM_001281494.2:c.2930_2943dup (MSH6)	NP_001268423.1:p.Thr982AlafsTer?