Canonical Allele Identifier: CA1139656965

Linked Data

ClinVar Variation Id: 986790
ClinVar RCV Id: RCV001267896
dbSNP Id: rs587781544

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47803661_47803663del , CM000664.2:g.47803661_47803663del GRCh38
NC_000002.11:g.48030800_48030802del , CM000664.1:g.48030800_48030802del GRCh37
NC_000002.10:g.47884304_47884306del NCBI36
NG_007111.1:g.25515_25517del , LRG_219:g.25515_25517del

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3117_3119del (MSH6) ENSP00000406248.2:p.Gly1040del
ENST00000420813.6:c.3117_3119del (MSH6) ENSP00000390382.2:p.Gly1040del
ENST00000455383.6:c.3117_3119del (MSH6) ENSP00000397484.2:p.Gly1040del
ENST00000700004.2:c.3173-1957_3173-1955del (MSH6) ENSP00000514752.2:n.3173-1957_3173-1955del
ENST00000699999.1:n.3498_3500del (MSH6)
ENST00000700000.1:c.1848_1850del (MSH6) ENSP00000514749.1:p.Gly617del
ENST00000700002.1:c.3420_3422del (MSH6) ENSP00000514750.1:p.Gly1141del
ENST00000700003.1:c.869_871del (MSH6) ENSP00000514751.1:n.869_871del
ENST00000700004.1:c.2330-1957_2330-1955del (MSH6) ENSP00000514752.1:n.2330-1957_2330-1955del
ENST00000700005.1:n.2265_2267del (MSH6)
ENST00000700006.1:n.2262_2264del (MSH6)
ENST00000700007.1:n.1419_1421del (MSH6)
ENST00000700008.1:n.993_995del (MSH6)
ENST00000700009.1:n.992_994del (MSH6)
ENST00000700010.1:n.823_825del (MSH6)
ENST00000700011.1:n.894_896del (MSH6)
ENST00000234420.11:c.3414_3416del (MSH6) MANE Select ENSP00000234420.5:p.Gly1139del
ENST00000540021.6:c.3024_3026del (MSH6) ENSP00000446475.1:p.Gly1009del
ENST00000652107.1:c.3117_3119del (MSH6) ENSP00000498629.1:p.Gly1040del
ENST00000673637.1:c.3117_3119del (MSH6) ENSP00000501310.1:p.Gly1040del
ENST00000234420.9:c.3414_3416del (MSH6) ENSP00000234420.4:p.Gly1139del
ENST00000405808.5:c.169+4535_169+4537del (FBXO11) ENSP00000385127.1:n.169+4535_169+4537del
ENST00000434234.5:c.*124+4334_*124+4336del (FBXO11) ENSP00000402692.1:n.*124+4334_*124+4336del
ENST00000445503.5:c.*2761_*2763del (MSH6) ENSP00000405294.1:n.*2761_*2763del
ENST00000538136.1:c.2508_2510del (MSH6) ENSP00000438580.1:p.Gly837del
ENST00000540021.5:c.3024_3026del (MSH6) ENSP00000446475.1:p.Gly1009del
ENST00000614496.4:c.2508_2510del (MSH6) ENSP00000477844.1:p.Gly837del
ENST00000622629.4:c.317_319del (MSH6) ENSP00000482078.1:p.Gly106del
NM_000179.2:c.3414_3416del , LRG_219t1:c.3414_3416del (MSH6) NP_000170.1:p.Gly1139del
NM_001281492.1:c.3024_3026del (MSH6) NP_001268421.1:p.Gly1009del
NM_001281493.1:c.2508_2510del (MSH6) NP_001268422.1:p.Gly837del
NM_001281494.1:c.2508_2510del (MSH6) NP_001268423.1:p.Gly837del
XM_005264271.1:c.3117_3119del (MSH6) XP_005264328.1:p.Gly1040del
XM_011532798.1:c.3231_3233del (MSH6) XP_011531100.1:p.Gly1078del
XM_011532799.1:c.3117_3119del (MSH6) XP_011531101.1:p.Gly1040del
XM_011532800.1:c.3117_3119del (MSH6) XP_011531102.1:p.Gly1040del
XM_024452819.1:c.3414_3416del (MSH6) XP_024308587.1:p.Gly1139del
XM_024452820.1:c.3231_3233del (MSH6) XP_024308588.1:p.Gly1078del
XM_024452821.1:c.3117_3119del (MSH6) XP_024308589.1:p.Gly1040del
XM_024452822.1:c.2508_2510del (MSH6) XP_024308590.1:p.Gly837del
NM_000179.3:c.3414_3416del (MSH6) MANE Select NP_000170.1:p.Gly1139del
NM_001281492.2:c.3024_3026del (MSH6) NP_001268421.1:p.Gly1009del
NM_001281493.2:c.2508_2510del (MSH6) NP_001268422.1:p.Gly837del
NM_001281494.2:c.2508_2510del (MSH6) NP_001268423.1:p.Gly837del