Canonical Allele Identifier: CA2582342379

Linked Data

ClinVar Variation Id: 2583853
ClinVar RCV Id: RCV003334775

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806437_47806452delinsAAGCTAATAGCA , CM000664.2:g.47806437_47806452delinsAAGCTAATAGCA GRCh38
NC_000002.11:g.48033576_48033591delinsAAGCTAATAGCA , CM000664.1:g.48033576_48033591delinsAAGCTAATAGCA GRCh37
NC_000002.10:g.47887080_47887095delinsAAGCTAATAGCA NCBI36
NG_007111.1:g.28291_28306delinsAAGCTAATAGCA , LRG_219:g.28291_28306delinsAAGCTAATAGCA
NG_008397.1:g.104224_104239delinsTGCTATTAGCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3505-15_3505delinsAAGCTAATAGCA (MSH6)
ENST00000420813.6:c.3505-15_3505delinsAAGCTAATAGCA (MSH6)
ENST00000455383.6:c.3505-15_3505delinsAAGCTAATAGCA (MSH6)
ENST00000700004.2:c.3418-15_3418delinsAAGCTAATAGCA (MSH6)
ENST00000699999.1:n.4476-15_4476delinsAAGCTAATAGCA (MSH6)
ENST00000700000.1:c.2236-15_2236delinsAAGCTAATAGCA (MSH6)
ENST00000700002.1:c.3808-15_3808delinsAAGCTAATAGCA (MSH6)
ENST00000700003.1:c.1257-15_1257delinsAAGCTAATAGCA (MSH6)
ENST00000700004.1:c.2575-15_2575delinsAAGCTAATAGCA (MSH6)
ENST00000700005.1:n.2653-15_2653delinsAAGCTAATAGCA (MSH6)
ENST00000700006.1:n.4960-15_4960delinsAAGCTAATAGCA (MSH6)
ENST00000700007.1:n.2397-15_2397delinsAAGCTAATAGCA (MSH6)
ENST00000700008.1:n.2049_2064delinsAAGCTAATAGCA (MSH6)
ENST00000700009.1:n.2466-15_2466delinsAAGCTAATAGCA (MSH6)
ENST00000700010.1:n.1211-15_1211delinsAAGCTAATAGCA (MSH6)
ENST00000700011.1:n.3096-15_3096delinsAAGCTAATAGCA (MSH6)
ENST00000682451.1:n.4296_4311delinsTGCTATTAGCTT (FBXO11)
ENST00000684712.1:n.4558_4573delinsTGCTATTAGCTT (FBXO11)
ENST00000234420.11:c.3802-15_3802delinsAAGCTAATAGCA (MSH6)
ENST00000540021.6:c.3412-15_3412delinsAAGCTAATAGCA (MSH6)
ENST00000652107.1:c.3505-15_3505delinsAAGCTAATAGCA (MSH6)
ENST00000673637.1:c.3505-15_3505delinsAAGCTAATAGCA (MSH6)
ENST00000234420.9:c.3802-15_3802delinsAAGCTAATAGCA (MSH6)
ENST00000405808.5:c.169+1743_169+1758delinsTGCTATTAGCTT (FBXO11) ENSP00000385127.1:n.169+1743_169+1758delinsTGCTATTAGCTT
ENST00000434234.5:c.*124+1542_*124+1557delinsTGCTATTAGCTT (FBXO11) ENSP00000402692.1:n.*124+1542_*124+1557delinsTGCTATTAGCTT
ENST00000445503.5:c.*3149-15_*3149delinsAAGCTAATAGCA (MSH6)
ENST00000538136.1:c.2896-15_2896delinsAAGCTAATAGCA (MSH6)
ENST00000540021.5:c.3412-15_3412delinsAAGCTAATAGCA (MSH6)
ENST00000614496.4:c.2896-15_2896delinsAAGCTAATAGCA (MSH6)
ENST00000622629.4:c.703-15_703delinsAAGCTAATAGCA (MSH6)
NM_000179.2:c.3802-15_3802delinsAAGCTAATAGCA , LRG_219t1:c.3802-15_3802delinsAAGCTAATAGCA (MSH6)
NM_001281492.1:c.3412-15_3412delinsAAGCTAATAGCA (MSH6)
NM_001281493.1:c.2896-15_2896delinsAAGCTAATAGCA (MSH6)
NM_001281494.1:c.2896-15_2896delinsAAGCTAATAGCA (MSH6)
XM_005264271.1:c.3505-15_3505delinsAAGCTAATAGCA (MSH6)
XM_011532798.1:c.3619-15_3619delinsAAGCTAATAGCA (MSH6)
XM_011532799.1:c.3505-15_3505delinsAAGCTAATAGCA (MSH6)
XM_011532800.1:c.3505-15_3505delinsAAGCTAATAGCA (MSH6)
XM_024452819.1:c.3880_3895delinsAAGCTAATAGCA (MSH6) XP_024308587.1:p.Phe1294LysfsTer8
XM_024452820.1:c.3697_3712delinsAAGCTAATAGCA (MSH6) XP_024308588.1:p.Phe1233LysfsTer8
XM_024452821.1:c.3583_3598delinsAAGCTAATAGCA (MSH6) XP_024308589.1:p.Phe1195LysfsTer8
XM_024452822.1:c.2974_2989delinsAAGCTAATAGCA (MSH6) XP_024308590.1:p.Phe992LysfsTer8
NM_000179.3:c.3802-15_3802delinsAAGCTAATAGCA (MSH6)
NM_001281492.2:c.3412-15_3412delinsAAGCTAATAGCA (MSH6)
NM_001281493.2:c.2896-15_2896delinsAAGCTAATAGCA (MSH6)
NM_001281494.2:c.2896-15_2896delinsAAGCTAATAGCA (MSH6)