Canonical Allele Identifier: CA2825001121

Linked Data

ClinVar Variation Id: 3076146
ClinVar RCV Id: RCV004018463

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803508_47803552del , CM000664.2:g.47803508_47803552del GRCh38
NC_000002.11:g.48030647_48030691del , CM000664.1:g.48030647_48030691del GRCh37
NC_000002.10:g.47884151_47884195del NCBI36
NG_007111.1:g.25362_25406del , LRG_219:g.25362_25406del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.2964_3008del (MSH6) ENSP00000406248.2:p.Phe989_Thr1003del
ENST00000420813.6:c.2964_3008del (MSH6) ENSP00000390382.2:p.Phe989_Thr1003del
ENST00000455383.6:c.2964_3008del (MSH6) ENSP00000397484.2:p.Phe989_Thr1003del
ENST00000700004.2:c.3173-2110_3173-2066del (MSH6) ENSP00000514752.2:n.3173-2110_3173-2066del
ENST00000699999.1:n.3345_3389del (MSH6)
ENST00000700000.1:c.1695_1739del (MSH6) ENSP00000514749.1:p.Phe566_Thr580del
ENST00000700002.1:c.3267_3311del (MSH6) ENSP00000514750.1:p.Phe1090_Thr1104del
ENST00000700003.1:c.716_760del (MSH6) ENSP00000514751.1:n.716_760del
ENST00000700004.1:c.2330-2110_2330-2066del (MSH6) ENSP00000514752.1:n.2330-2110_2330-2066del
ENST00000700005.1:n.2112_2156del (MSH6)
ENST00000700006.1:n.2109_2153del (MSH6)
ENST00000700007.1:n.1266_1310del (MSH6)
ENST00000700008.1:n.840_884del (MSH6)
ENST00000700009.1:n.839_883del (MSH6)
ENST00000700010.1:n.670_714del (MSH6)
ENST00000700011.1:n.741_785del (MSH6)
ENST00000234420.11:c.3261_3305del (MSH6) MANE Select ENSP00000234420.5:p.Phe1088_Thr1102del
ENST00000540021.6:c.2871_2915del (MSH6) ENSP00000446475.1:p.Phe958_Thr972del
ENST00000652107.1:c.2964_3008del (MSH6) ENSP00000498629.1:p.Phe989_Thr1003del
ENST00000673637.1:c.2964_3008del (MSH6) ENSP00000501310.1:p.Phe989_Thr1003del
ENST00000234420.9:c.3261_3305del (MSH6) ENSP00000234420.4:p.Phe1088_Thr1102del
ENST00000405808.5:c.169+4644_169+4688del (FBXO11) ENSP00000385127.1:n.169+4644_169+4688del
ENST00000434234.5:c.*124+4443_*124+4487del (FBXO11) ENSP00000402692.1:n.*124+4443_*124+4487del
ENST00000445503.5:c.*2608_*2652del (MSH6) ENSP00000405294.1:n.*2608_*2652del
ENST00000538136.1:c.2355_2399del (MSH6) ENSP00000438580.1:p.Phe786_Thr800del
ENST00000540021.5:c.2871_2915del (MSH6) ENSP00000446475.1:p.Phe958_Thr972del
ENST00000614496.4:c.2355_2399del (MSH6) ENSP00000477844.1:p.Phe786_Thr800del
ENST00000622629.4:c.165_209del (MSH6) ENSP00000482078.1:p.Phe56_Thr70del
NM_000179.2:c.3261_3305del , LRG_219t1:c.3261_3305del (MSH6) NP_000170.1:p.Phe1088_Thr1102del
NM_001281492.1:c.2871_2915del (MSH6) NP_001268421.1:p.Phe958_Thr972del
NM_001281493.1:c.2355_2399del (MSH6) NP_001268422.1:p.Phe786_Thr800del
NM_001281494.1:c.2355_2399del (MSH6) NP_001268423.1:p.Phe786_Thr800del
XM_005264271.1:c.2964_3008del (MSH6) XP_005264328.1:p.Phe989_Thr1003del
XM_011532798.1:c.3078_3122del (MSH6) XP_011531100.1:p.Phe1027_Thr1041del
XM_011532799.1:c.2964_3008del (MSH6) XP_011531101.1:p.Phe989_Thr1003del
XM_011532800.1:c.2964_3008del (MSH6) XP_011531102.1:p.Phe989_Thr1003del
XM_024452819.1:c.3261_3305del (MSH6) XP_024308587.1:p.Phe1088_Thr1102del
XM_024452820.1:c.3078_3122del (MSH6) XP_024308588.1:p.Phe1027_Thr1041del
XM_024452821.1:c.2964_3008del (MSH6) XP_024308589.1:p.Phe989_Thr1003del
XM_024452822.1:c.2355_2399del (MSH6) XP_024308590.1:p.Phe786_Thr800del
NM_000179.3:c.3261_3305del (MSH6) MANE Select NP_000170.1:p.Phe1088_Thr1102del
NM_001281492.2:c.2871_2915del (MSH6) NP_001268421.1:p.Phe958_Thr972del
NM_001281493.2:c.2355_2399del (MSH6) NP_001268422.1:p.Phe786_Thr800del
NM_001281494.2:c.2355_2399del (MSH6) NP_001268423.1:p.Phe786_Thr800del