Canonical Allele Identifier: CA2573134740

Linked Data

ClinVar Variation Id: 1405945
dbSNP Id: rs2104507417

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804977_47804995del , CM000664.2:g.47804977_47804995del GRCh38
NC_000002.11:g.48032116_48032134del , CM000664.1:g.48032116_48032134del GRCh37
NC_000002.10:g.47885620_47885638del NCBI36
NG_007111.1:g.26831_26849del , LRG_219:g.26831_26849del
NG_008397.1:g.105683_105701del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3209_3227del (MSH6) ENSP00000406248.2:p.Pro1070LeufsTer9
ENST00000420813.6:c.3209_3227del (MSH6) ENSP00000390382.2:p.Pro1070LeufsTer9
ENST00000455383.6:c.3209_3227del (MSH6) ENSP00000397484.2:p.Pro1070LeufsTer9
ENST00000700004.2:c.3173-641_3173-623del (MSH6) ENSP00000514752.2:n.3173-641_3173-623del
ENST00000699999.1:n.3590_3608del (MSH6)
ENST00000700000.1:c.1940_1958del (MSH6) ENSP00000514749.1:p.Pro647LeufsTer9
ENST00000700002.1:c.3512_3530del (MSH6) ENSP00000514750.1:p.Pro1171LeufsTer9
ENST00000700003.1:c.961_979del (MSH6) ENSP00000514751.1:n.961_979del
ENST00000700004.1:c.2330-641_2330-623del (MSH6) ENSP00000514752.1:n.2330-641_2330-623del
ENST00000700005.1:n.2357_2375del (MSH6)
ENST00000700006.1:n.3578_3596del (MSH6)
ENST00000700007.1:n.1511_1529del (MSH6)
ENST00000700008.1:n.1085_1103del (MSH6)
ENST00000700009.1:n.1084_1102del (MSH6)
ENST00000700010.1:n.915_933del (MSH6)
ENST00000700011.1:n.2210_2228del (MSH6)
ENST00000234420.11:c.3506_3524del (MSH6) MANE Select ENSP00000234420.5:p.Pro1169LeufsTer9
ENST00000540021.6:c.3116_3134del (MSH6) ENSP00000446475.1:p.Pro1039LeufsTer9
ENST00000652107.1:c.3209_3227del (MSH6) ENSP00000498629.1:p.Pro1070LeufsTer9
ENST00000673637.1:c.3209_3227del (MSH6) ENSP00000501310.1:p.Pro1070LeufsTer9
ENST00000234420.9:c.3506_3524del (MSH6) ENSP00000234420.4:p.Pro1169LeufsTer9
ENST00000405808.5:c.169+3202_169+3220del (FBXO11) ENSP00000385127.1:n.169+3202_169+3220del
ENST00000434234.5:c.*124+3001_*124+3019del (FBXO11) ENSP00000402692.1:n.*124+3001_*124+3019del
ENST00000445503.5:c.*2853_*2871del (MSH6) ENSP00000405294.1:n.*2853_*2871del
ENST00000538136.1:c.2600_2618del (MSH6) ENSP00000438580.1:p.Pro867LeufsTer9
ENST00000540021.5:c.3116_3134del (MSH6) ENSP00000446475.1:p.Pro1039LeufsTer9
ENST00000614496.4:c.2600_2618del (MSH6) ENSP00000477844.1:p.Pro867LeufsTer9
ENST00000622629.4:c.410_428del (MSH6) ENSP00000482078.1:p.Pro137LeufsTer9
NM_000179.2:c.3506_3524del , LRG_219t1:c.3506_3524del (MSH6) NP_000170.1:p.Pro1169LeufsTer9
NM_001281492.1:c.3116_3134del (MSH6) NP_001268421.1:p.Pro1039LeufsTer9
NM_001281493.1:c.2600_2618del (MSH6) NP_001268422.1:p.Pro867LeufsTer9
NM_001281494.1:c.2600_2618del (MSH6) NP_001268423.1:p.Pro867LeufsTer9
XM_005264271.1:c.3209_3227del (MSH6) XP_005264328.1:p.Pro1070LeufsTer9
XM_011532798.1:c.3323_3341del (MSH6) XP_011531100.1:p.Pro1108LeufsTer9
XM_011532799.1:c.3209_3227del (MSH6) XP_011531101.1:p.Pro1070LeufsTer9
XM_011532800.1:c.3209_3227del (MSH6) XP_011531102.1:p.Pro1070LeufsTer9
XM_024452819.1:c.3506_3524del (MSH6) XP_024308587.1:p.Pro1169LeufsTer9
XM_024452820.1:c.3323_3341del (MSH6) XP_024308588.1:p.Pro1108LeufsTer9
XM_024452821.1:c.3209_3227del (MSH6) XP_024308589.1:p.Pro1070LeufsTer9
XM_024452822.1:c.2600_2618del (MSH6) XP_024308590.1:p.Pro867LeufsTer9
NM_000179.3:c.3506_3524del (MSH6) MANE Select NP_000170.1:p.Pro1169LeufsTer9
NM_001281492.2:c.3116_3134del (MSH6) NP_001268421.1:p.Pro1039LeufsTer9
NM_001281493.2:c.2600_2618del (MSH6) NP_001268422.1:p.Pro867LeufsTer9
NM_001281494.2:c.2600_2618del (MSH6) NP_001268423.1:p.Pro867LeufsTer9