Canonical Allele Identifier: CA915943957

Linked Data

ClinVar Variation Id: 658964
dbSNP Id: rs1572738865

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804993_47804995delinsAT , CM000664.2:g.47804993_47804995delinsAT GRCh38
NC_000002.11:g.48032132_48032134delinsAT , CM000664.1:g.48032132_48032134delinsAT GRCh37
NC_000002.10:g.47885636_47885638delinsAT NCBI36
NG_007111.1:g.26847_26849delinsAT , LRG_219:g.26847_26849delinsAT
NG_008397.1:g.105681_105683delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3225_3227delinsAT (MSH6) ENSP00000406248.2:p.Phe1075LeufsTer10
ENST00000420813.6:c.3225_3227delinsAT (MSH6) ENSP00000390382.2:p.Phe1075LeufsTer10
ENST00000455383.6:c.3225_3227delinsAT (MSH6) ENSP00000397484.2:p.Phe1075LeufsTer10
ENST00000700004.2:c.3173-625_3173-623delinsAT (MSH6) ENSP00000514752.2:n.3173-625_3173-623delinsAT
ENST00000699999.1:n.3606_3608delinsAT (MSH6)
ENST00000700000.1:c.1956_1958delinsAT (MSH6) ENSP00000514749.1:p.Phe652LeufsTer10
ENST00000700002.1:c.3528_3530delinsAT (MSH6) ENSP00000514750.1:p.Phe1176LeufsTer10
ENST00000700003.1:c.977_979delinsAT (MSH6) ENSP00000514751.1:n.977_979delinsAT
ENST00000700004.1:c.2330-625_2330-623delinsAT (MSH6) ENSP00000514752.1:n.2330-625_2330-623delinsAT
ENST00000700005.1:n.2373_2375delinsAT (MSH6)
ENST00000700006.1:n.3594_3596delinsAT (MSH6)
ENST00000700007.1:n.1527_1529delinsAT (MSH6)
ENST00000700008.1:n.1101_1103delinsAT (MSH6)
ENST00000700009.1:n.1100_1102delinsAT (MSH6)
ENST00000700010.1:n.931_933delinsAT (MSH6)
ENST00000700011.1:n.2226_2228delinsAT (MSH6)
ENST00000234420.11:c.3522_3524delinsAT (MSH6) MANE Select ENSP00000234420.5:p.Phe1174LeufsTer10
ENST00000540021.6:c.3132_3134delinsAT (MSH6) ENSP00000446475.1:p.Phe1044LeufsTer10
ENST00000652107.1:c.3225_3227delinsAT (MSH6) ENSP00000498629.1:p.Phe1075LeufsTer10
ENST00000673637.1:c.3225_3227delinsAT (MSH6) ENSP00000501310.1:p.Phe1075LeufsTer10
ENST00000234420.9:c.3522_3524delinsAT (MSH6) ENSP00000234420.4:p.Phe1174LeufsTer10
ENST00000405808.5:c.169+3200_169+3202delinsAT (FBXO11) ENSP00000385127.1:n.169+3200_169+3202delinsAT
ENST00000434234.5:c.*124+2999_*124+3001delinsAT (FBXO11) ENSP00000402692.1:n.*124+2999_*124+3001delinsAT
ENST00000445503.5:c.*2869_*2871delinsAT (MSH6) ENSP00000405294.1:n.*2869_*2871delinsAT
ENST00000538136.1:c.2616_2618delinsAT (MSH6) ENSP00000438580.1:p.Phe872LeufsTer10
ENST00000540021.5:c.3132_3134delinsAT (MSH6) ENSP00000446475.1:p.Phe1044LeufsTer10
ENST00000614496.4:c.2616_2618delinsAT (MSH6) ENSP00000477844.1:p.Phe872LeufsTer10
ENST00000622629.4:c.426_428delinsAT (MSH6) ENSP00000482078.1:p.Phe142LeufsTer10
NM_000179.2:c.3522_3524delinsAT , LRG_219t1:c.3522_3524delinsAT (MSH6) NP_000170.1:p.Phe1174LeufsTer10
NM_001281492.1:c.3132_3134delinsAT (MSH6) NP_001268421.1:p.Phe1044LeufsTer10
NM_001281493.1:c.2616_2618delinsAT (MSH6) NP_001268422.1:p.Phe872LeufsTer10
NM_001281494.1:c.2616_2618delinsAT (MSH6) NP_001268423.1:p.Phe872LeufsTer10
XM_005264271.1:c.3225_3227delinsAT (MSH6) XP_005264328.1:p.Phe1075LeufsTer10
XM_011532798.1:c.3339_3341delinsAT (MSH6) XP_011531100.1:p.Phe1113LeufsTer10
XM_011532799.1:c.3225_3227delinsAT (MSH6) XP_011531101.1:p.Phe1075LeufsTer10
XM_011532800.1:c.3225_3227delinsAT (MSH6) XP_011531102.1:p.Phe1075LeufsTer10
XM_024452819.1:c.3522_3524delinsAT (MSH6) XP_024308587.1:p.Phe1174LeufsTer10
XM_024452820.1:c.3339_3341delinsAT (MSH6) XP_024308588.1:p.Phe1113LeufsTer10
XM_024452821.1:c.3225_3227delinsAT (MSH6) XP_024308589.1:p.Phe1075LeufsTer10
XM_024452822.1:c.2616_2618delinsAT (MSH6) XP_024308590.1:p.Phe872LeufsTer10
NM_000179.3:c.3522_3524delinsAT (MSH6) MANE Select NP_000170.1:p.Phe1174LeufsTer10
NM_001281492.2:c.3132_3134delinsAT (MSH6) NP_001268421.1:p.Phe1044LeufsTer10
NM_001281493.2:c.2616_2618delinsAT (MSH6) NP_001268422.1:p.Phe872LeufsTer10
NM_001281494.2:c.2616_2618delinsAT (MSH6) NP_001268423.1:p.Phe872LeufsTer10