Canonical Allele Identifier: CA2496052981

Linked Data

ClinVar Variation Id: 1081997
ClinVar RCV Id: RCV001398165
dbSNP Id: rs1669883708

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805036_47805037insA , CM000664.2:g.47805036_47805037insA GRCh38
NC_000002.11:g.48032175_48032176insA , CM000664.1:g.48032175_48032176insA GRCh37
NC_000002.10:g.47885679_47885680insA NCBI36
NG_007111.1:g.26890_26891insA , LRG_219:g.26890_26891insA
NG_008397.1:g.105639_105640insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3259+9_3259+10insA (MSH6) ENSP00000406248.2:n.3259+9_3259+10insA
ENST00000420813.6:c.3259+9_3259+10insA (MSH6) ENSP00000390382.2:n.3259+9_3259+10insA
ENST00000455383.6:c.3259+9_3259+10insA (MSH6) ENSP00000397484.2:n.3259+9_3259+10insA
ENST00000700004.2:c.3173-582_3173-581insA (MSH6) ENSP00000514752.2:n.3173-582_3173-581insA
ENST00000699999.1:n.3649_3650insA (MSH6)
ENST00000700000.1:c.1990+9_1990+10insA (MSH6) ENSP00000514749.1:n.1990+9_1990+10insA
ENST00000700002.1:c.3562+9_3562+10insA (MSH6) ENSP00000514750.1:n.3562+9_3562+10insA
ENST00000700003.1:c.1011+9_1011+10insA (MSH6) ENSP00000514751.1:n.1011+9_1011+10insA
ENST00000700004.1:c.2330-582_2330-581insA (MSH6) ENSP00000514752.1:n.2330-582_2330-581insA
ENST00000700005.1:n.2407+9_2407+10insA (MSH6)
ENST00000700006.1:n.3637_3638insA (MSH6)
ENST00000700007.1:n.1570_1571insA (MSH6)
ENST00000700008.1:n.1144_1145insA (MSH6)
ENST00000700009.1:n.1143_1144insA (MSH6)
ENST00000700010.1:n.965+9_965+10insA (MSH6)
ENST00000700011.1:n.2269_2270insA (MSH6)
ENST00000234420.11:c.3556+9_3556+10insA (MSH6) MANE Select ENSP00000234420.5:n.3556+9_3556+10insA
ENST00000540021.6:c.3166+9_3166+10insA (MSH6) ENSP00000446475.1:n.3166+9_3166+10insA
ENST00000652107.1:c.3259+9_3259+10insA (MSH6) ENSP00000498629.1:n.3259+9_3259+10insA
ENST00000673637.1:c.3259+9_3259+10insA (MSH6) ENSP00000501310.1:n.3259+9_3259+10insA
ENST00000234420.9:c.3556+9_3556+10insA (MSH6) ENSP00000234420.4:n.3556+9_3556+10insA
ENST00000405808.5:c.169+3158_169+3159insT (FBXO11) ENSP00000385127.1:n.169+3158_169+3159insT
ENST00000434234.5:c.*124+2957_*124+2958insT (FBXO11) ENSP00000402692.1:n.*124+2957_*124+2958insT
ENST00000445503.5:c.*2903+9_*2903+10insA (MSH6) ENSP00000405294.1:n.*2903+9_*2903+10insA
ENST00000538136.1:c.2650+9_2650+10insA (MSH6) ENSP00000438580.1:n.2650+9_2650+10insA
ENST00000540021.5:c.3166+9_3166+10insA (MSH6) ENSP00000446475.1:n.3166+9_3166+10insA
ENST00000614496.4:c.2650+9_2650+10insA (MSH6) ENSP00000477844.1:n.2650+9_2650+10insA
ENST00000622629.4:c.460+9_460+10insA (MSH6) ENSP00000482078.1:n.460+9_460+10insA
NM_000179.2:c.3556+9_3556+10insA , LRG_219t1:c.3556+9_3556+10insA (MSH6) NP_000170.1:n.3556+9_3556+10insA
NM_001281492.1:c.3166+9_3166+10insA (MSH6) NP_001268421.1:n.3166+9_3166+10insA
NM_001281493.1:c.2650+9_2650+10insA (MSH6) NP_001268422.1:n.2650+9_2650+10insA
NM_001281494.1:c.2650+9_2650+10insA (MSH6) NP_001268423.1:n.2650+9_2650+10insA
XM_005264271.1:c.3259+9_3259+10insA (MSH6) XP_005264328.1:n.3259+9_3259+10insA
XM_011532798.1:c.3373+9_3373+10insA (MSH6) XP_011531100.1:n.3373+9_3373+10insA
XM_011532799.1:c.3259+9_3259+10insA (MSH6) XP_011531101.1:n.3259+9_3259+10insA
XM_011532800.1:c.3259+9_3259+10insA (MSH6) XP_011531102.1:n.3259+9_3259+10insA
XM_024452819.1:c.3556+9_3556+10insA (MSH6) XP_024308587.1:n.3556+9_3556+10insA
XM_024452820.1:c.3373+9_3373+10insA (MSH6) XP_024308588.1:n.3373+9_3373+10insA
XM_024452821.1:c.3259+9_3259+10insA (MSH6) XP_024308589.1:n.3259+9_3259+10insA
XM_024452822.1:c.2650+9_2650+10insA (MSH6) XP_024308590.1:n.2650+9_2650+10insA
NM_000179.3:c.3556+9_3556+10insA (MSH6) MANE Select NP_000170.1:n.3556+9_3556+10insA
NM_001281492.2:c.3166+9_3166+10insA (MSH6) NP_001268421.1:n.3166+9_3166+10insA
NM_001281493.2:c.2650+9_2650+10insA (MSH6) NP_001268422.1:n.2650+9_2650+10insA
NM_001281494.2:c.2650+9_2650+10insA (MSH6) NP_001268423.1:n.2650+9_2650+10insA