Canonical Allele Identifier: CA532705479

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2782981
• ClinVar RCV Id: RCV003759978
• dbSNP Id: rs1558386692
• gnomAD v2: 2-48030537-CTT-C
• gnomAD v4: 2-47803398-CTT-C
• MyVariant Identifiers: chr2:g.48030538_48030539del (hg19) ; chr2:g.47803399_47803400del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803401_47803402del , CM000664.2:g.47803401_47803402del	GRCh38
NC_000002.11:g.48030540_48030541del , CM000664.1:g.48030540_48030541del	GRCh37
NC_000002.10:g.47884044_47884045del	NCBI36
NG_007111.1:g.25255_25256del , LRG_219:g.25255_25256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2876-19_2876-18del (MSH6)	ENSP00000406248.2:n.2876-19_2876-18del
ENST00000420813.6:c.2876-19_2876-18del (MSH6)	ENSP00000390382.2:n.2876-19_2876-18del
ENST00000455383.6:c.2876-19_2876-18del (MSH6)	ENSP00000397484.2:n.2876-19_2876-18del
ENST00000700004.2:c.3173-2217_3173-2216del (MSH6)	ENSP00000514752.2:n.3173-2217_3173-2216del
ENST00000699999.1:n.3257-19_3257-18del (MSH6)
ENST00000700000.1:c.1607-19_1607-18del (MSH6)	ENSP00000514749.1:n.1607-19_1607-18del
ENST00000700002.1:c.3179-19_3179-18del (MSH6)	ENSP00000514750.1:n.3179-19_3179-18del
ENST00000700003.1:c.628-19_628-18del (MSH6)	ENSP00000514751.1:n.628-19_628-18del
ENST00000700004.1:c.2330-2217_2330-2216del (MSH6)	ENSP00000514752.1:n.2330-2217_2330-2216del
ENST00000700005.1:n.2005_2006del (MSH6)
ENST00000700006.1:n.2002_2003del (MSH6)
ENST00000700007.1:n.1159_1160del (MSH6)
ENST00000700008.1:n.733_734del (MSH6)
ENST00000700009.1:n.732_733del (MSH6)
ENST00000700010.1:n.582-19_582-18del (MSH6)
ENST00000700011.1:n.634_635del (MSH6)
ENST00000234420.11:c.3173-19_3173-18del (MSH6) MANE Select	ENSP00000234420.5:n.3173-19_3173-18del
ENST00000540021.6:c.2783-19_2783-18del (MSH6)	ENSP00000446475.1:n.2783-19_2783-18del
ENST00000652107.1:c.2876-19_2876-18del (MSH6)	ENSP00000498629.1:n.2876-19_2876-18del
ENST00000673637.1:c.2876-19_2876-18del (MSH6)	ENSP00000501310.1:n.2876-19_2876-18del
ENST00000234420.9:c.3173-19_3173-18del (MSH6)	ENSP00000234420.4:n.3173-19_3173-18del
ENST00000405808.5:c.169+4795_169+4796del (FBXO11)	ENSP00000385127.1:n.169+4795_169+4796del
ENST00000434234.5:c.*124+4594_*124+4595del (FBXO11)	ENSP00000402692.1:n.*124+4594_*124+4595del
ENST00000445503.5:c.*2520-19_*2520-18del (MSH6)	ENSP00000405294.1:n.*2520-19_*2520-18del
ENST00000538136.1:c.2267-19_2267-18del (MSH6)	ENSP00000438580.1:n.2267-19_2267-18del
ENST00000540021.5:c.2783-19_2783-18del (MSH6)	ENSP00000446475.1:n.2783-19_2783-18del
ENST00000614496.4:c.2267-19_2267-18del (MSH6)	ENSP00000477844.1:n.2267-19_2267-18del
ENST00000622629.4:c.77-19_77-18del (MSH6)	ENSP00000482078.1:n.77-19_77-18del
NM_000179.2:c.3173-19_3173-18del , LRG_219t1:c.3173-19_3173-18del (MSH6)	NP_000170.1:n.3173-19_3173-18del
NM_001281492.1:c.2783-19_2783-18del (MSH6)	NP_001268421.1:n.2783-19_2783-18del
NM_001281493.1:c.2267-19_2267-18del (MSH6)	NP_001268422.1:n.2267-19_2267-18del
NM_001281494.1:c.2267-19_2267-18del (MSH6)	NP_001268423.1:n.2267-19_2267-18del
XM_005264271.1:c.2876-19_2876-18del (MSH6)	XP_005264328.1:n.2876-19_2876-18del
XM_011532798.1:c.2990-19_2990-18del (MSH6)	XP_011531100.1:n.2990-19_2990-18del
XM_011532799.1:c.2876-19_2876-18del (MSH6)	XP_011531101.1:n.2876-19_2876-18del
XM_011532800.1:c.2876-19_2876-18del (MSH6)	XP_011531102.1:n.2876-19_2876-18del
XM_024452819.1:c.3173-19_3173-18del (MSH6)	XP_024308587.1:n.3173-19_3173-18del
XM_024452820.1:c.2990-19_2990-18del (MSH6)	XP_024308588.1:n.2990-19_2990-18del
XM_024452821.1:c.2876-19_2876-18del (MSH6)	XP_024308589.1:n.2876-19_2876-18del
XM_024452822.1:c.2267-19_2267-18del (MSH6)	XP_024308590.1:n.2267-19_2267-18del
NM_000179.3:c.3173-19_3173-18del (MSH6) MANE Select	NP_000170.1:n.3173-19_3173-18del
NM_001281492.2:c.2783-19_2783-18del (MSH6)	NP_001268421.1:n.2783-19_2783-18del
NM_001281493.2:c.2267-19_2267-18del (MSH6)	NP_001268422.1:n.2267-19_2267-18del
NM_001281494.2:c.2267-19_2267-18del (MSH6)	NP_001268423.1:n.2267-19_2267-18del