Canonical Allele Identifier: CA2739274374

Linked Data

ClinVar Variation Id: 2861026
ClinVar RCV Id: RCV003759285

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806197_47806198insA , CM000664.2:g.47806197_47806198insA GRCh38
NC_000002.11:g.48033336_48033337insA , CM000664.1:g.48033336_48033337insA GRCh37
NC_000002.10:g.47886840_47886841insA NCBI36
NG_007111.1:g.28051_28052insA , LRG_219:g.28051_28052insA
NG_008397.1:g.104478_104479insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3350-7_3350-6insA (MSH6) ENSP00000406248.2:n.3350-7_3350-6insA
ENST00000420813.6:c.3350-7_3350-6insA (MSH6) ENSP00000390382.2:n.3350-7_3350-6insA
ENST00000455383.6:c.3350-7_3350-6insA (MSH6) ENSP00000397484.2:n.3350-7_3350-6insA
ENST00000700004.2:c.3263-7_3263-6insA (MSH6) ENSP00000514752.2:n.3263-7_3263-6insA
ENST00000699999.1:n.4321-7_4321-6insA (MSH6)
ENST00000700000.1:c.2081-7_2081-6insA (MSH6) ENSP00000514749.1:n.2081-7_2081-6insA
ENST00000700002.1:c.3653-7_3653-6insA (MSH6) ENSP00000514750.1:n.3653-7_3653-6insA
ENST00000700003.1:c.1102-7_1102-6insA (MSH6) ENSP00000514751.1:n.1102-7_1102-6insA
ENST00000700004.1:c.2420-7_2420-6insA (MSH6) ENSP00000514752.1:n.2420-7_2420-6insA
ENST00000700005.1:n.2498-7_2498-6insA (MSH6)
ENST00000700006.1:n.4798_4799insA (MSH6)
ENST00000700007.1:n.2242-7_2242-6insA (MSH6)
ENST00000700008.1:n.1816-7_1816-6insA (MSH6)
ENST00000700009.1:n.2304_2305insA (MSH6)
ENST00000700010.1:n.1056-7_1056-6insA (MSH6)
ENST00000700011.1:n.2941-7_2941-6insA (MSH6)
ENST00000682451.1:n.4550_4551insT (FBXO11)
ENST00000684712.1:n.4812_4813insT (FBXO11)
ENST00000234420.11:c.3647-7_3647-6insA (MSH6) MANE Select ENSP00000234420.5:n.3647-7_3647-6insA
ENST00000540021.6:c.3257-7_3257-6insA (MSH6) ENSP00000446475.1:n.3257-7_3257-6insA
ENST00000652107.1:c.3350-7_3350-6insA (MSH6) ENSP00000498629.1:n.3350-7_3350-6insA
ENST00000673637.1:c.3350-7_3350-6insA (MSH6) ENSP00000501310.1:n.3350-7_3350-6insA
ENST00000234420.9:c.3647-7_3647-6insA (MSH6) ENSP00000234420.4:n.3647-7_3647-6insA
ENST00000405808.5:c.169+1997_169+1998insT (FBXO11) ENSP00000385127.1:n.169+1997_169+1998insT
ENST00000434234.5:c.*124+1796_*124+1797insT (FBXO11) ENSP00000402692.1:n.*124+1796_*124+1797insT
ENST00000445503.5:c.*2994-7_*2994-6insA (MSH6) ENSP00000405294.1:n.*2994-7_*2994-6insA
ENST00000538136.1:c.2741-7_2741-6insA (MSH6) ENSP00000438580.1:n.2741-7_2741-6insA
ENST00000540021.5:c.3257-7_3257-6insA (MSH6) ENSP00000446475.1:n.3257-7_3257-6insA
ENST00000614496.4:c.2741-7_2741-6insA (MSH6) ENSP00000477844.1:n.2741-7_2741-6insA
ENST00000622629.4:c.551-7_551-6insA (MSH6) ENSP00000482078.1:n.551-7_551-6insA
NM_000179.2:c.3647-7_3647-6insA , LRG_219t1:c.3647-7_3647-6insA (MSH6) NP_000170.1:n.3647-7_3647-6insA
NM_001281492.1:c.3257-7_3257-6insA (MSH6) NP_001268421.1:n.3257-7_3257-6insA
NM_001281493.1:c.2741-7_2741-6insA (MSH6) NP_001268422.1:n.2741-7_2741-6insA
NM_001281494.1:c.2741-7_2741-6insA (MSH6) NP_001268423.1:n.2741-7_2741-6insA
XM_005264271.1:c.3350-7_3350-6insA (MSH6) XP_005264328.1:n.3350-7_3350-6insA
XM_011532798.1:c.3464-7_3464-6insA (MSH6) XP_011531100.1:n.3464-7_3464-6insA
XM_011532799.1:c.3350-7_3350-6insA (MSH6) XP_011531101.1:n.3350-7_3350-6insA
XM_011532800.1:c.3350-7_3350-6insA (MSH6) XP_011531102.1:n.3350-7_3350-6insA
XM_024452819.1:c.3647-7_3647-6insA (MSH6) XP_024308587.1:n.3647-7_3647-6insA
XM_024452820.1:c.3464-7_3464-6insA (MSH6) XP_024308588.1:n.3464-7_3464-6insA
XM_024452821.1:c.3350-7_3350-6insA (MSH6) XP_024308589.1:n.3350-7_3350-6insA
XM_024452822.1:c.2741-7_2741-6insA (MSH6) XP_024308590.1:n.2741-7_2741-6insA
NM_000179.3:c.3647-7_3647-6insA (MSH6) MANE Select NP_000170.1:n.3647-7_3647-6insA
NM_001281492.2:c.3257-7_3257-6insA (MSH6) NP_001268421.1:n.3257-7_3257-6insA
NM_001281493.2:c.2741-7_2741-6insA (MSH6) NP_001268422.1:n.2741-7_2741-6insA
NM_001281494.2:c.2741-7_2741-6insA (MSH6) NP_001268423.1:n.2741-7_2741-6insA