Canonical Allele Identifier: CA014173

Linked Data

ClinVar Variation Id: 89456
ClinVar RCV Id: RCV000074924
dbSNP Id: rs587779289

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806314_47806315insA , CM000664.2:g.47806314_47806315insA GRCh38
NC_000002.11:g.48033453_48033454insA , CM000664.1:g.48033453_48033454insA GRCh37
NC_000002.10:g.47886957_47886958insA NCBI36
NG_007111.1:g.28168_28169insA , LRG_219:g.28168_28169insA
NG_008397.1:g.104361_104362insT

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3460_3461insA (MSH6) ENSP00000406248.2:p.Val1154AspfsTer22
ENST00000420813.6:c.3460_3461insA (MSH6) ENSP00000390382.2:p.Val1154AspfsTer22
ENST00000455383.6:c.3460_3461insA (MSH6) ENSP00000397484.2:p.Val1154AspfsTer22
ENST00000700004.2:c.3373_3374insA (MSH6) ENSP00000514752.2:p.Val1125AspfsTer22
ENST00000699999.1:n.4431_4432insA (MSH6)
ENST00000700000.1:c.2191_2192insA (MSH6) ENSP00000514749.1:p.Val731AspfsTer22
ENST00000700002.1:c.3763_3764insA (MSH6) ENSP00000514750.1:p.Val1255AspfsTer22
ENST00000700003.1:c.1212_1213insA (MSH6) ENSP00000514751.1:n.1212_1213insA
ENST00000700004.1:c.2530_2531insA (MSH6) ENSP00000514752.1:p.Val844AspfsTer22
ENST00000700005.1:n.2608_2609insA (MSH6)
ENST00000700006.1:n.4915_4916insA (MSH6)
ENST00000700007.1:n.2352_2353insA (MSH6)
ENST00000700008.1:n.1926_1927insA (MSH6)
ENST00000700009.1:n.2421_2422insA (MSH6)
ENST00000700010.1:n.1166_1167insA (MSH6)
ENST00000700011.1:n.3051_3052insA (MSH6)
ENST00000682451.1:n.4433_4434insT (FBXO11)
ENST00000684712.1:n.4695_4696insT (FBXO11)
ENST00000234420.11:c.3757_3758insA (MSH6) MANE Select ENSP00000234420.5:p.Val1253AspfsTer22
ENST00000540021.6:c.3367_3368insA (MSH6) ENSP00000446475.1:p.Val1123AspfsTer22
ENST00000652107.1:c.3460_3461insA (MSH6) ENSP00000498629.1:p.Val1154AspfsTer22
ENST00000673637.1:c.3460_3461insA (MSH6) ENSP00000501310.1:p.Val1154AspfsTer22
ENST00000234420.9:c.3757_3758insA (MSH6) ENSP00000234420.4:p.Val1253AspfsTer22
ENST00000405808.5:c.169+1880_169+1881insT (FBXO11) ENSP00000385127.1:n.169+1880_169+1881insT...
ENST00000434234.5:c.*124+1679_*124+1680insT (FBXO11) ENSP00000402692.1:n.*124+1679_*124+1680in...
ENST00000445503.5:c.*3104_*3105insA (MSH6) ENSP00000405294.1:n.*3104_*3105insA
ENST00000538136.1:c.2851_2852insA (MSH6) ENSP00000438580.1:p.Val951AspfsTer22
ENST00000540021.5:c.3367_3368insA (MSH6) ENSP00000446475.1:p.Val1123AspfsTer22
ENST00000614496.4:c.2851_2852insA (MSH6) ENSP00000477844.1:p.Val951AspfsTer22
ENST00000622629.4:c.659_660insA (MSH6) ENSP00000482078.1:p.Ser220ArgfsTer2
NM_000179.2:c.3757_3758insA , LRG_219t1:c.3757_3758insA (MSH6) NP_000170.1:p.Val1253AspfsTer22
NM_001281492.1:c.3367_3368insA (MSH6) NP_001268421.1:p.Val1123AspfsTer22
NM_001281493.1:c.2851_2852insA (MSH6) NP_001268422.1:p.Val951AspfsTer22
NM_001281494.1:c.2851_2852insA (MSH6) NP_001268423.1:p.Val951AspfsTer22
XM_005264271.1:c.3460_3461insA (MSH6) XP_005264328.1:p.Val1154AspfsTer22
XM_011532798.1:c.3574_3575insA (MSH6) XP_011531100.1:p.Val1192AspfsTer22
XM_011532799.1:c.3460_3461insA (MSH6) XP_011531101.1:p.Val1154AspfsTer22
XM_011532800.1:c.3460_3461insA (MSH6) XP_011531102.1:p.Val1154AspfsTer22
XM_024452819.1:c.3757_3758insA (MSH6) XP_024308587.1:p.Val1253AspfsTer29
XM_024452820.1:c.3574_3575insA (MSH6) XP_024308588.1:p.Val1192AspfsTer29
XM_024452821.1:c.3460_3461insA (MSH6) XP_024308589.1:p.Val1154AspfsTer29
XM_024452822.1:c.2851_2852insA (MSH6) XP_024308590.1:p.Val951AspfsTer29
NM_000179.3:c.3757_3758insA (MSH6) MANE Select NP_000170.1:p.Val1253AspfsTer22
NM_001281492.2:c.3367_3368insA (MSH6) NP_001268421.1:p.Val1123AspfsTer22
NM_001281493.2:c.2851_2852insA (MSH6) NP_001268422.1:p.Val951AspfsTer22
NM_001281494.2:c.2851_2852insA (MSH6) NP_001268423.1:p.Val951AspfsTer22