Canonical Allele Identifier: CA071740

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs770803606
• ExAC: 2:48033309 G / GAGTT
• gnomAD v2: 2-48033309-G-GAGTT
• gnomAD v3: 2-47806170-G-GAGTT
• gnomAD v4: 2-47806170-G-GAGTT
• MyVariant Identifiers: chr2:g.48033309_48033310insAGTT (hg19) ; chr2:g.47806170_47806171insAGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806172_47806175dup , CM000664.2:g.47806172_47806175dup	GRCh38
NC_000002.11:g.48033311_48033314dup , CM000664.1:g.48033311_48033314dup	GRCh37
NC_000002.10:g.47886815_47886818dup	NCBI36
NG_007111.1:g.28026_28029dup , LRG_219:g.28026_28029dup
NG_008397.1:g.104502_104505dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3350-32_3350-29dup (MSH6)	ENSP00000406248.2:n.3350-32_3350-29dup
ENST00000420813.6:c.3350-32_3350-29dup (MSH6)	ENSP00000390382.2:n.3350-32_3350-29dup
ENST00000455383.6:c.3350-32_3350-29dup (MSH6)	ENSP00000397484.2:n.3350-32_3350-29dup
ENST00000700004.2:c.3263-32_3263-29dup (MSH6)	ENSP00000514752.2:n.3263-32_3263-29dup
ENST00000699999.1:n.4321-32_4321-29dup (MSH6)
ENST00000700000.1:c.2081-32_2081-29dup (MSH6)	ENSP00000514749.1:n.2081-32_2081-29dup
ENST00000700002.1:c.3653-32_3653-29dup (MSH6)	ENSP00000514750.1:n.3653-32_3653-29dup
ENST00000700003.1:c.1102-32_1102-29dup (MSH6)	ENSP00000514751.1:n.1102-32_1102-29dup
ENST00000700004.1:c.2420-32_2420-29dup (MSH6)	ENSP00000514752.1:n.2420-32_2420-29dup
ENST00000700005.1:n.2498-32_2498-29dup (MSH6)
ENST00000700006.1:n.4773_4776dup (MSH6)
ENST00000700007.1:n.2242-32_2242-29dup (MSH6)
ENST00000700008.1:n.1816-32_1816-29dup (MSH6)
ENST00000700009.1:n.2279_2282dup (MSH6)
ENST00000700010.1:n.1056-32_1056-29dup (MSH6)
ENST00000700011.1:n.2941-32_2941-29dup (MSH6)
ENST00000682451.1:n.4574_4577dup (FBXO11)
ENST00000684712.1:n.4836_4839dup (FBXO11)
ENST00000234420.11:c.3647-32_3647-29dup (MSH6) MANE Select	ENSP00000234420.5:n.3647-32_3647-29dup
ENST00000540021.6:c.3257-32_3257-29dup (MSH6)	ENSP00000446475.1:n.3257-32_3257-29dup
ENST00000652107.1:c.3350-32_3350-29dup (MSH6)	ENSP00000498629.1:n.3350-32_3350-29dup
ENST00000673637.1:c.3350-32_3350-29dup (MSH6)	ENSP00000501310.1:n.3350-32_3350-29dup
ENST00000234420.9:c.3647-32_3647-29dup (MSH6)	ENSP00000234420.4:n.3647-32_3647-29dup
ENST00000405808.5:c.169+2021_169+2024dup (FBXO11)	ENSP00000385127.1:n.169+2021_169+2024dup
ENST00000434234.5:c.*124+1820_*124+1823dup (FBXO11)	ENSP00000402692.1:n.*124+1820_*124+1823dup
ENST00000445503.5:c.*2994-32_*2994-29dup (MSH6)	ENSP00000405294.1:n.*2994-32_*2994-29dup
ENST00000538136.1:c.2741-32_2741-29dup (MSH6)	ENSP00000438580.1:n.2741-32_2741-29dup
ENST00000540021.5:c.3257-32_3257-29dup (MSH6)	ENSP00000446475.1:n.3257-32_3257-29dup
ENST00000614496.4:c.2741-32_2741-29dup (MSH6)	ENSP00000477844.1:n.2741-32_2741-29dup
ENST00000622629.4:c.551-32_551-29dup (MSH6)	ENSP00000482078.1:n.551-32_551-29dup
NM_000179.2:c.3647-32_3647-29dup , LRG_219t1:c.3647-32_3647-29dup (MSH6)	NP_000170.1:n.3647-32_3647-29dup
NM_001281492.1:c.3257-32_3257-29dup (MSH6)	NP_001268421.1:n.3257-32_3257-29dup
NM_001281493.1:c.2741-32_2741-29dup (MSH6)	NP_001268422.1:n.2741-32_2741-29dup
NM_001281494.1:c.2741-32_2741-29dup (MSH6)	NP_001268423.1:n.2741-32_2741-29dup
XM_005264271.1:c.3350-32_3350-29dup (MSH6)	XP_005264328.1:n.3350-32_3350-29dup
XM_011532798.1:c.3464-32_3464-29dup (MSH6)	XP_011531100.1:n.3464-32_3464-29dup
XM_011532799.1:c.3350-32_3350-29dup (MSH6)	XP_011531101.1:n.3350-32_3350-29dup
XM_011532800.1:c.3350-32_3350-29dup (MSH6)	XP_011531102.1:n.3350-32_3350-29dup
XM_024452819.1:c.3647-32_3647-29dup (MSH6)	XP_024308587.1:n.3647-32_3647-29dup
XM_024452820.1:c.3464-32_3464-29dup (MSH6)	XP_024308588.1:n.3464-32_3464-29dup
XM_024452821.1:c.3350-32_3350-29dup (MSH6)	XP_024308589.1:n.3350-32_3350-29dup
XM_024452822.1:c.2741-32_2741-29dup (MSH6)	XP_024308590.1:n.2741-32_2741-29dup
NM_000179.3:c.3647-32_3647-29dup (MSH6) MANE Select	NP_000170.1:n.3647-32_3647-29dup
NM_001281492.2:c.3257-32_3257-29dup (MSH6)	NP_001268421.1:n.3257-32_3257-29dup
NM_001281493.2:c.2741-32_2741-29dup (MSH6)	NP_001268422.1:n.2741-32_2741-29dup
NM_001281494.2:c.2741-32_2741-29dup (MSH6)	NP_001268423.1:n.2741-32_2741-29dup