Canonical Allele Identifier: CA913090565

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 821660
• ClinVar RCV Id: RCV001016284 ; RCV001058469 ; RCV001249987 ; RCV001354264
• dbSNP Id: rs1572728112
• gnomAD v4: 2-47800654-ATC-A
• MyVariant Identifiers: chr2:g.48027794_48027795del (hg19)
• CIViC: CA913090565

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800660_47800661del , CM000664.2:g.47800660_47800661del	GRCh38
NC_000002.11:g.48027799_48027800del , CM000664.1:g.48027799_48027800del	GRCh37
NC_000002.10:g.47881303_47881304del	NCBI36
NG_007111.1:g.22514_22515del , LRG_219:g.22514_22515del

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.2380_2381del (MSH6)	ENSP00000406248.2:p.Leu794AlafsTer6
ENST00000420813.6:c.2380_2381del (MSH6)	ENSP00000390382.2:p.Leu794AlafsTer6
ENST00000455383.6:c.2380_2381del (MSH6)	ENSP00000397484.2:p.Leu794AlafsTer6
ENST00000700004.2:c.2677_2678del (MSH6)	ENSP00000514752.2:p.Leu893AlafsTer6
ENST00000699999.1:n.2761_2762del (MSH6)
ENST00000700000.1:c.1606+1071_1606+1072del (MSH6)	ENSP00000514749.1:n.1606+1071_1606+1072de...
ENST00000700002.1:c.2683_2684del (MSH6)	ENSP00000514750.1:p.Leu895AlafsTer6
ENST00000700003.1:c.628-2760_628-2759del (MSH6)	ENSP00000514751.1:n.628-2760_628-2759del
ENST00000700004.1:c.1834_1835del (MSH6)	ENSP00000514752.1:p.Leu612AlafsTer6
ENST00000234420.11:c.2677_2678del (MSH6) MANE Select	ENSP00000234420.5:p.Leu893AlafsTer6
ENST00000540021.6:c.2287_2288del (MSH6)	ENSP00000446475.1:p.Leu763AlafsTer6
ENST00000652107.1:c.2380_2381del (MSH6)	ENSP00000498629.1:p.Leu794AlafsTer6
ENST00000673637.1:c.2380_2381del (MSH6)	ENSP00000501310.1:p.Leu794AlafsTer6
ENST00000234420.9:c.2677_2678del (MSH6)	ENSP00000234420.4:p.Leu893AlafsTer6
ENST00000405808.5:c.169+7539_169+7540del (FBXO11)	ENSP00000385127.1:n.169+7539_169+7540del
ENST00000434234.5:c.*124+7338_*124+7339del (FBXO11)	ENSP00000402692.1:n.*124+7338_*124+7339de...
ENST00000445503.5:c.*2024_*2025del (MSH6)	ENSP00000405294.1:n.*2024_*2025del
ENST00000538136.1:c.1771_1772del (MSH6)	ENSP00000438580.1:p.Leu591AlafsTer6
ENST00000540021.5:c.2287_2288del (MSH6)	ENSP00000446475.1:p.Leu763AlafsTer6
ENST00000614496.4:c.1771_1772del (MSH6)	ENSP00000477844.1:p.Leu591AlafsTer6
ENST00000616033.4:c.2674_2675del (MSH6)	ENSP00000480261.1:p.Leu892AlafsTer6
ENST00000622629.4:c.-420_-419del (MSH6)	ENSP00000482078.1:n.-420_-419del
NM_000179.2:c.2677_2678del , LRG_219t1:c.2677_2678del (MSH6)	NP_000170.1:p.Leu893AlafsTer6
NM_001281492.1:c.2287_2288del (MSH6)	NP_001268421.1:p.Leu763AlafsTer6
NM_001281493.1:c.1771_1772del (MSH6)	NP_001268422.1:p.Leu591AlafsTer6
NM_001281494.1:c.1771_1772del (MSH6)	NP_001268423.1:p.Leu591AlafsTer6
XM_005264271.1:c.2380_2381del (MSH6)	XP_005264328.1:p.Leu794AlafsTer6
XM_011532798.1:c.2494_2495del (MSH6)	XP_011531100.1:p.Leu832AlafsTer6
XM_011532799.1:c.2380_2381del (MSH6)	XP_011531101.1:p.Leu794AlafsTer6
XM_011532800.1:c.2380_2381del (MSH6)	XP_011531102.1:p.Leu794AlafsTer6
XM_024452819.1:c.2677_2678del (MSH6)	XP_024308587.1:p.Leu893AlafsTer6
XM_024452820.1:c.2494_2495del (MSH6)	XP_024308588.1:p.Leu832AlafsTer6
XM_024452821.1:c.2380_2381del (MSH6)	XP_024308589.1:p.Leu794AlafsTer6
XM_024452822.1:c.1771_1772del (MSH6)	XP_024308590.1:p.Leu591AlafsTer6
NM_000179.3:c.2677_2678del (MSH6) MANE Select	NP_000170.1:p.Leu893AlafsTer6
NM_001281492.2:c.2287_2288del (MSH6)	NP_001268421.1:p.Leu763AlafsTer6
NM_001281493.2:c.1771_1772del (MSH6)	NP_001268422.1:p.Leu591AlafsTer6
NM_001281494.2:c.1771_1772del (MSH6)	NP_001268423.1:p.Leu591AlafsTer6