Canonical Allele Identifier: CA013281

Linked Data

ClinVar Variation Id: 89408
dbSNP Id: rs267608101

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804990_47804993dup , CM000664.2:g.47804990_47804993dup GRCh38
NC_000002.11:g.48032129_48032132dup , CM000664.1:g.48032129_48032132dup GRCh37
NC_000002.10:g.47885633_47885636dup NCBI36
NG_007111.1:g.26844_26847dup , LRG_219:g.26844_26847dup
NG_008397.1:g.105684_105687dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3222_3225dup (MSH6) ENSP00000406248.2:p.Thr1076ValfsTer3
ENST00000420813.6:c.3222_3225dup (MSH6) ENSP00000390382.2:p.Thr1076ValfsTer3
ENST00000455383.6:c.3222_3225dup (MSH6) ENSP00000397484.2:p.Thr1076ValfsTer3
ENST00000700004.2:c.3173-628_3173-625dup (MSH6) ENSP00000514752.2:n.3173-628_3173-625dup
ENST00000699999.1:n.3603_3606dup (MSH6)
ENST00000700000.1:c.1953_1956dup (MSH6) ENSP00000514749.1:p.Thr653ValfsTer3
ENST00000700002.1:c.3525_3528dup (MSH6) ENSP00000514750.1:p.Thr1177ValfsTer3
ENST00000700003.1:c.974_977dup (MSH6) ENSP00000514751.1:n.974_977dup
ENST00000700004.1:c.2330-628_2330-625dup (MSH6) ENSP00000514752.1:n.2330-628_2330-625dup
ENST00000700005.1:n.2370_2373dup (MSH6)
ENST00000700006.1:n.3591_3594dup (MSH6)
ENST00000700007.1:n.1524_1527dup (MSH6)
ENST00000700008.1:n.1098_1101dup (MSH6)
ENST00000700009.1:n.1097_1100dup (MSH6)
ENST00000700010.1:n.928_931dup (MSH6)
ENST00000700011.1:n.2223_2226dup (MSH6)
ENST00000234420.11:c.3519_3522dup (MSH6) MANE Select ENSP00000234420.5:p.Thr1175ValfsTer3
ENST00000540021.6:c.3129_3132dup (MSH6) ENSP00000446475.1:p.Thr1045ValfsTer3
ENST00000652107.1:c.3222_3225dup (MSH6) ENSP00000498629.1:p.Thr1076ValfsTer3
ENST00000673637.1:c.3222_3225dup (MSH6) ENSP00000501310.1:p.Thr1076ValfsTer3
ENST00000234420.9:c.3519_3522dup (MSH6) ENSP00000234420.4:p.Thr1175ValfsTer3
ENST00000405808.5:c.169+3203_169+3206dup (FBXO11) ENSP00000385127.1:n.169+3203_169+3206dup
ENST00000434234.5:c.*124+3002_*124+3005dup (FBXO11) ENSP00000402692.1:n.*124+3002_*124+3005du...
ENST00000445503.5:c.*2866_*2869dup (MSH6) ENSP00000405294.1:n.*2866_*2869dup
ENST00000538136.1:c.2613_2616dup (MSH6) ENSP00000438580.1:p.Thr873ValfsTer3
ENST00000540021.5:c.3129_3132dup (MSH6) ENSP00000446475.1:p.Thr1045ValfsTer3
ENST00000614496.4:c.2613_2616dup (MSH6) ENSP00000477844.1:p.Thr873ValfsTer3
ENST00000622629.4:c.423_426dup (MSH6) ENSP00000482078.1:p.Thr143ValfsTer3
NM_000179.2:c.3519_3522dup , LRG_219t1:c.3519_3522dup (MSH6) NP_000170.1:p.Thr1175ValfsTer3
NM_001281492.1:c.3129_3132dup (MSH6) NP_001268421.1:p.Thr1045ValfsTer3
NM_001281493.1:c.2613_2616dup (MSH6) NP_001268422.1:p.Thr873ValfsTer3
NM_001281494.1:c.2613_2616dup (MSH6) NP_001268423.1:p.Thr873ValfsTer3
XM_005264271.1:c.3222_3225dup (MSH6) XP_005264328.1:p.Thr1076ValfsTer3
XM_011532798.1:c.3336_3339dup (MSH6) XP_011531100.1:p.Thr1114ValfsTer3
XM_011532799.1:c.3222_3225dup (MSH6) XP_011531101.1:p.Thr1076ValfsTer3
XM_011532800.1:c.3222_3225dup (MSH6) XP_011531102.1:p.Thr1076ValfsTer3
XM_024452819.1:c.3519_3522dup (MSH6) XP_024308587.1:p.Thr1175ValfsTer3
XM_024452820.1:c.3336_3339dup (MSH6) XP_024308588.1:p.Thr1114ValfsTer3
XM_024452821.1:c.3222_3225dup (MSH6) XP_024308589.1:p.Thr1076ValfsTer3
XM_024452822.1:c.2613_2616dup (MSH6) XP_024308590.1:p.Thr873ValfsTer3
NM_000179.3:c.3519_3522dup (MSH6) MANE Select NP_000170.1:p.Thr1175ValfsTer3
NM_001281492.2:c.3129_3132dup (MSH6) NP_001268421.1:p.Thr1045ValfsTer3
NM_001281493.2:c.2613_2616dup (MSH6) NP_001268422.1:p.Thr873ValfsTer3
NM_001281494.2:c.2613_2616dup (MSH6) NP_001268423.1:p.Thr873ValfsTer3