Canonical Allele Identifier: CA015007

Linked Data

ClinVar Variation Id: 89496
dbSNP Id: rs267608121

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806634_47806637dup , CM000664.2:g.47806634_47806637dup GRCh38
NC_000002.11:g.48033773_48033776dup , CM000664.1:g.48033773_48033776dup GRCh37
NC_000002.10:g.47887277_47887280dup NCBI36
NG_007111.1:g.28488_28491dup , LRG_219:g.28488_28491dup
NG_008397.1:g.104042_104045dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3687_3690dup (MSH6) ENSP00000406248.2:p.Leu1231ValfsTer12
ENST00000420813.6:c.3687_3690dup (MSH6) ENSP00000390382.2:p.Leu1231ValfsTer12
ENST00000455383.6:c.3687_3690dup (MSH6) ENSP00000397484.2:p.Leu1231ValfsTer12
ENST00000700004.2:c.3600_3603dup (MSH6) ENSP00000514752.2:p.Leu1202ValfsTer12
ENST00000699999.1:n.4658_4661dup (MSH6)
ENST00000700000.1:c.2418_2421dup (MSH6) ENSP00000514749.1:p.Leu808ValfsTer12
ENST00000700002.1:c.3990_3993dup (MSH6) ENSP00000514750.1:p.Leu1332ValfsTer12
ENST00000700003.1:c.1439_1442dup (MSH6) ENSP00000514751.1:n.1439_1442dup
ENST00000700004.1:c.2757_2760dup (MSH6) ENSP00000514752.1:p.Leu921ValfsTer12
ENST00000700005.1:n.2835_2838dup (MSH6)
ENST00000700006.1:n.5142_5145dup (MSH6)
ENST00000700007.1:n.2579_2582dup (MSH6)
ENST00000700008.1:n.2246_2249dup (MSH6)
ENST00000700009.1:n.2648_2651dup (MSH6)
ENST00000700010.1:n.1393_1396dup (MSH6)
ENST00000700011.1:n.3278_3281dup (MSH6)
ENST00000682451.1:n.4114_4117dup (FBXO11)
ENST00000684712.1:n.4376_4379dup (FBXO11)
ENST00000234420.11:c.3984_3987dup (MSH6) MANE Select ENSP00000234420.5:p.Leu1330ValfsTer12
ENST00000540021.6:c.3594_3597dup (MSH6) ENSP00000446475.1:p.Leu1200ValfsTer12
ENST00000652107.1:c.3687_3690dup (MSH6) ENSP00000498629.1:p.Leu1231ValfsTer12
ENST00000673637.1:c.3687_3690dup (MSH6) ENSP00000501310.1:p.Leu1231ValfsTer12
ENST00000234420.9:c.3984_3987dup (MSH6) ENSP00000234420.4:p.Leu1330ValfsTer12
ENST00000405808.5:c.169+1561_169+1564dup (FBXO11) ENSP00000385127.1:n.169+1561_169+1564dup
ENST00000434234.5:c.*124+1360_*124+1363dup (FBXO11) ENSP00000402692.1:n.*124+1360_*124+1363du...
ENST00000445503.5:c.*3331_*3334dup (MSH6) ENSP00000405294.1:n.*3331_*3334dup
ENST00000538136.1:c.3078_3081dup (MSH6) ENSP00000438580.1:p.Leu1028ValfsTer12
ENST00000540021.5:c.3594_3597dup (MSH6) ENSP00000446475.1:p.Leu1200ValfsTer12
ENST00000614496.4:c.3078_3081dup (MSH6) ENSP00000477844.1:p.Leu1028ValfsTer12
ENST00000622629.4:c.885_888dup (MSH6) ENSP00000482078.1:p.Leu297ValfsTer12
NM_000179.2:c.3984_3987dup , LRG_219t1:c.3984_3987dup (MSH6) NP_000170.1:p.Leu1330ValfsTer12
NM_001281492.1:c.3594_3597dup (MSH6) NP_001268421.1:p.Leu1200ValfsTer12
NM_001281493.1:c.3078_3081dup (MSH6) NP_001268422.1:p.Leu1028ValfsTer12
NM_001281494.1:c.3078_3081dup (MSH6) NP_001268423.1:p.Leu1028ValfsTer12
XM_005264271.1:c.3687_3690dup (MSH6) XP_005264328.1:p.Leu1231ValfsTer12
XM_011532798.1:c.3801_3804dup (MSH6) XP_011531100.1:p.Leu1269ValfsTer12
XM_011532799.1:c.3687_3690dup (MSH6) XP_011531101.1:p.Leu1231ValfsTer12
XM_011532800.1:c.3687_3690dup (MSH6) XP_011531102.1:p.Leu1231ValfsTer12
XM_024452819.1:c.4077_4080dup (MSH6) XP_024308587.1:p.Leu1361ValfsTer12
XM_024452820.1:c.3894_3897dup (MSH6) XP_024308588.1:p.Leu1300ValfsTer12
XM_024452821.1:c.3780_3783dup (MSH6) XP_024308589.1:p.Leu1262ValfsTer12
XM_024452822.1:c.3171_3174dup (MSH6) XP_024308590.1:p.Leu1059ValfsTer12
NM_000179.3:c.3984_3987dup (MSH6) MANE Select NP_000170.1:p.Leu1330ValfsTer12
NM_001281492.2:c.3594_3597dup (MSH6) NP_001268421.1:p.Leu1200ValfsTer12
NM_001281493.2:c.3078_3081dup (MSH6) NP_001268422.1:p.Leu1028ValfsTer12
NM_001281494.2:c.3078_3081dup (MSH6) NP_001268423.1:p.Leu1028ValfsTer12