Canonical Allele Identifier: CA2580067288

Linked Data

ClinVar Variation Id: 1734002
ClinVar RCV Id: RCV002346758

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806254_47806255insGA , CM000664.2:g.47806254_47806255insGA GRCh38
NC_000002.11:g.48033393_48033394insGA , CM000664.1:g.48033393_48033394insGA GRCh37
NC_000002.10:g.47886897_47886898insGA NCBI36
NG_007111.1:g.28108_28109insGA , LRG_219:g.28108_28109insGA
NG_008397.1:g.104422_104423insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3400_3401insGA (MSH6) ENSP00000406248.2:p.Lys1134ArgfsTer8
ENST00000420813.6:c.3400_3401insGA (MSH6) ENSP00000390382.2:p.Lys1134ArgfsTer8
ENST00000455383.6:c.3400_3401insGA (MSH6) ENSP00000397484.2:p.Lys1134ArgfsTer8
ENST00000700004.2:c.3313_3314insGA (MSH6) ENSP00000514752.2:p.Lys1105ArgfsTer8
ENST00000699999.1:n.4371_4372insGA (MSH6)
ENST00000700000.1:c.2131_2132insGA (MSH6) ENSP00000514749.1:p.Lys711ArgfsTer8
ENST00000700002.1:c.3703_3704insGA (MSH6) ENSP00000514750.1:p.Lys1235ArgfsTer8
ENST00000700003.1:c.1152_1153insGA (MSH6) ENSP00000514751.1:n.1152_1153insGA
ENST00000700004.1:c.2470_2471insGA (MSH6) ENSP00000514752.1:p.Lys824ArgfsTer8
ENST00000700005.1:n.2548_2549insGA (MSH6)
ENST00000700006.1:n.4855_4856insGA (MSH6)
ENST00000700007.1:n.2292_2293insGA (MSH6)
ENST00000700008.1:n.1866_1867insGA (MSH6)
ENST00000700009.1:n.2361_2362insGA (MSH6)
ENST00000700010.1:n.1106_1107insGA (MSH6)
ENST00000700011.1:n.2991_2992insGA (MSH6)
ENST00000682451.1:n.4494_4495insCT (FBXO11)
ENST00000684712.1:n.4756_4757insCT (FBXO11)
ENST00000234420.11:c.3697_3698insGA (MSH6) MANE Select ENSP00000234420.5:p.Lys1233ArgfsTer8
ENST00000540021.6:c.3307_3308insGA (MSH6) ENSP00000446475.1:p.Lys1103ArgfsTer8
ENST00000652107.1:c.3400_3401insGA (MSH6) ENSP00000498629.1:p.Lys1134ArgfsTer8
ENST00000673637.1:c.3400_3401insGA (MSH6) ENSP00000501310.1:p.Lys1134ArgfsTer8
ENST00000234420.9:c.3697_3698insGA (MSH6) ENSP00000234420.4:p.Lys1233ArgfsTer8
ENST00000405808.5:c.169+1941_169+1942insCT (FBXO11) ENSP00000385127.1:n.169+1941_169+1942insCT
ENST00000434234.5:c.*124+1740_*124+1741insCT (FBXO11) ENSP00000402692.1:n.*124+1740_*124+1741insCT
ENST00000445503.5:c.*3044_*3045insGA (MSH6) ENSP00000405294.1:n.*3044_*3045insGA
ENST00000538136.1:c.2791_2792insGA (MSH6) ENSP00000438580.1:p.Lys931ArgfsTer8
ENST00000540021.5:c.3307_3308insGA (MSH6) ENSP00000446475.1:p.Lys1103ArgfsTer8
ENST00000614496.4:c.2791_2792insGA (MSH6) ENSP00000477844.1:p.Lys931ArgfsTer8
ENST00000622629.4:c.601_602insGA (MSH6) ENSP00000482078.1:p.Lys201ArgfsTer8
NM_000179.2:c.3697_3698insGA , LRG_219t1:c.3697_3698insGA (MSH6) NP_000170.1:p.Lys1233ArgfsTer8
NM_001281492.1:c.3307_3308insGA (MSH6) NP_001268421.1:p.Lys1103ArgfsTer8
NM_001281493.1:c.2791_2792insGA (MSH6) NP_001268422.1:p.Lys931ArgfsTer8
NM_001281494.1:c.2791_2792insGA (MSH6) NP_001268423.1:p.Lys931ArgfsTer8
XM_005264271.1:c.3400_3401insGA (MSH6) XP_005264328.1:p.Lys1134ArgfsTer8
XM_011532798.1:c.3514_3515insGA (MSH6) XP_011531100.1:p.Lys1172ArgfsTer8
XM_011532799.1:c.3400_3401insGA (MSH6) XP_011531101.1:p.Lys1134ArgfsTer8
XM_011532800.1:c.3400_3401insGA (MSH6) XP_011531102.1:p.Lys1134ArgfsTer8
XM_024452819.1:c.3697_3698insGA (MSH6) XP_024308587.1:p.Lys1233ArgfsTer8
XM_024452820.1:c.3514_3515insGA (MSH6) XP_024308588.1:p.Lys1172ArgfsTer8
XM_024452821.1:c.3400_3401insGA (MSH6) XP_024308589.1:p.Lys1134ArgfsTer8
XM_024452822.1:c.2791_2792insGA (MSH6) XP_024308590.1:p.Lys931ArgfsTer8
NM_000179.3:c.3697_3698insGA (MSH6) MANE Select NP_000170.1:p.Lys1233ArgfsTer8
NM_001281492.2:c.3307_3308insGA (MSH6) NP_001268421.1:p.Lys1103ArgfsTer8
NM_001281493.2:c.2791_2792insGA (MSH6) NP_001268422.1:p.Lys931ArgfsTer8
NM_001281494.2:c.2791_2792insGA (MSH6) NP_001268423.1:p.Lys931ArgfsTer8