Canonical Allele Identifier: CA2580067917

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1791473
• ClinVar RCV Id: RCV002455431

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800433_47800435del , CM000664.2:g.47800433_47800435del	GRCh38
NC_000002.11:g.48027572_48027574del , CM000664.1:g.48027572_48027574del	GRCh37
NC_000002.10:g.47881076_47881078del	NCBI36
NG_007111.1:g.22287_22289del , LRG_219:g.22287_22289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2153_2155del (MSH6)	ENSP00000406248.2:p.Asp718_Leu719delinsVal
ENST00000420813.6:c.2153_2155del (MSH6)	ENSP00000390382.2:p.Asp718_Leu719delinsVal
ENST00000455383.6:c.2153_2155del (MSH6)	ENSP00000397484.2:p.Asp718_Leu719delinsVal
ENST00000700004.2:c.2450_2452del (MSH6)	ENSP00000514752.2:p.Asp817_Leu818delinsVal
ENST00000699999.1:n.2534_2536del (MSH6)
ENST00000700000.1:c.1606+844_1606+846del (MSH6)	ENSP00000514749.1:n.1606+844_1606+846del
ENST00000700002.1:c.2456_2458del (MSH6)	ENSP00000514750.1:p.Asp819_Leu820delinsVal
ENST00000700003.1:c.628-2987_628-2985del (MSH6)	ENSP00000514751.1:n.628-2987_628-2985del
ENST00000700004.1:c.1607_1609del (MSH6)	ENSP00000514752.1:p.Asp536_Leu537delinsVal
ENST00000234420.11:c.2450_2452del (MSH6) MANE Select	ENSP00000234420.5:p.Asp817_Leu818delinsVal
ENST00000540021.6:c.2060_2062del (MSH6)	ENSP00000446475.1:p.Asp687_Leu688delinsVal
ENST00000652107.1:c.2153_2155del (MSH6)	ENSP00000498629.1:p.Asp718_Leu719delinsVal
ENST00000673637.1:c.2153_2155del (MSH6)	ENSP00000501310.1:p.Asp718_Leu719delinsVal
ENST00000234420.9:c.2450_2452del (MSH6)	ENSP00000234420.4:p.Asp817_Leu818delinsVal
ENST00000405808.5:c.169+7760_169+7762del (FBXO11)	ENSP00000385127.1:n.169+7760_169+7762del
ENST00000434234.5:c.*124+7559_*124+7561del (FBXO11)	ENSP00000402692.1:n.*124+7559_*124+7561del
ENST00000445503.5:c.*1797_*1799del (MSH6)	ENSP00000405294.1:n.*1797_*1799del
ENST00000538136.1:c.1544_1546del (MSH6)	ENSP00000438580.1:p.Asp515_Leu516delinsVal
ENST00000540021.5:c.2060_2062del (MSH6)	ENSP00000446475.1:p.Asp687_Leu688delinsVal
ENST00000614496.4:c.1544_1546del (MSH6)	ENSP00000477844.1:p.Asp515_Leu516delinsVal
ENST00000616033.4:c.2447_2449del (MSH6)	ENSP00000480261.1:p.Asp816_Leu817delinsVal
ENST00000622629.4:c.-647_-645del (MSH6)	ENSP00000482078.1:n.-647_-645del
NM_000179.2:c.2450_2452del , LRG_219t1:c.2450_2452del (MSH6)	NP_000170.1:p.Asp817_Leu818delinsVal
NM_001281492.1:c.2060_2062del (MSH6)	NP_001268421.1:p.Asp687_Leu688delinsVal
NM_001281493.1:c.1544_1546del (MSH6)	NP_001268422.1:p.Asp515_Leu516delinsVal
NM_001281494.1:c.1544_1546del (MSH6)	NP_001268423.1:p.Asp515_Leu516delinsVal
XM_005264271.1:c.2153_2155del (MSH6)	XP_005264328.1:p.Asp718_Leu719delinsVal
XM_011532798.1:c.2267_2269del (MSH6)	XP_011531100.1:p.Asp756_Leu757delinsVal
XM_011532799.1:c.2153_2155del (MSH6)	XP_011531101.1:p.Asp718_Leu719delinsVal
XM_011532800.1:c.2153_2155del (MSH6)	XP_011531102.1:p.Asp718_Leu719delinsVal
XM_024452819.1:c.2450_2452del (MSH6)	XP_024308587.1:p.Asp817_Leu818delinsVal
XM_024452820.1:c.2267_2269del (MSH6)	XP_024308588.1:p.Asp756_Leu757delinsVal
XM_024452821.1:c.2153_2155del (MSH6)	XP_024308589.1:p.Asp718_Leu719delinsVal
XM_024452822.1:c.1544_1546del (MSH6)	XP_024308590.1:p.Asp515_Leu516delinsVal
NM_000179.3:c.2450_2452del (MSH6) MANE Select	NP_000170.1:p.Asp817_Leu818delinsVal
NM_001281492.2:c.2060_2062del (MSH6)	NP_001268421.1:p.Asp687_Leu688delinsVal
NM_001281493.2:c.1544_1546del (MSH6)	NP_001268422.1:p.Asp515_Leu516delinsVal
NM_001281494.2:c.1544_1546del (MSH6)	NP_001268423.1:p.Asp515_Leu516delinsVal