Canonical Allele Identifier: CA2695200649

Linked Data

ClinVar Variation Id: 2673787
ClinVar RCV Id: RCV003450424

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806565_47806566insA , CM000664.2:g.47806565_47806566insA GRCh38
NC_000002.11:g.48033704_48033705insA , CM000664.1:g.48033704_48033705insA GRCh37
NC_000002.10:g.47887208_47887209insA NCBI36
NG_007111.1:g.28419_28420insA , LRG_219:g.28419_28420insA
NG_008397.1:g.104110_104111insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3618_3619insA (MSH6) ENSP00000406248.2:p.Ala1207SerfsTer2
ENST00000420813.6:c.3618_3619insA (MSH6) ENSP00000390382.2:p.Ala1207SerfsTer2
ENST00000455383.6:c.3618_3619insA (MSH6) ENSP00000397484.2:p.Ala1207SerfsTer2
ENST00000700004.2:c.3531_3532insA (MSH6) ENSP00000514752.2:p.Ala1178SerfsTer2
ENST00000699999.1:n.4589_4590insA (MSH6)
ENST00000700000.1:c.2349_2350insA (MSH6) ENSP00000514749.1:p.Ala784SerfsTer2
ENST00000700002.1:c.3921_3922insA (MSH6) ENSP00000514750.1:p.Ala1308SerfsTer2
ENST00000700003.1:c.1370_1371insA (MSH6) ENSP00000514751.1:n.1370_1371insA
ENST00000700004.1:c.2688_2689insA (MSH6) ENSP00000514752.1:p.Ala897SerfsTer2
ENST00000700005.1:n.2766_2767insA (MSH6)
ENST00000700006.1:n.5073_5074insA (MSH6)
ENST00000700007.1:n.2510_2511insA (MSH6)
ENST00000700008.1:n.2177_2178insA (MSH6)
ENST00000700009.1:n.2579_2580insA (MSH6)
ENST00000700010.1:n.1324_1325insA (MSH6)
ENST00000700011.1:n.3209_3210insA (MSH6)
ENST00000682451.1:n.4182_4183insT (FBXO11)
ENST00000684712.1:n.4444_4445insT (FBXO11)
ENST00000234420.11:c.3915_3916insA (MSH6) MANE Select ENSP00000234420.5:p.Ala1306SerfsTer2
ENST00000540021.6:c.3525_3526insA (MSH6) ENSP00000446475.1:p.Ala1176SerfsTer2
ENST00000652107.1:c.3618_3619insA (MSH6) ENSP00000498629.1:p.Ala1207SerfsTer2
ENST00000673637.1:c.3618_3619insA (MSH6) ENSP00000501310.1:p.Ala1207SerfsTer2
ENST00000234420.9:c.3915_3916insA (MSH6) ENSP00000234420.4:p.Ala1306SerfsTer2
ENST00000405808.5:c.169+1629_169+1630insT (FBXO11) ENSP00000385127.1:n.169+1629_169+1630insT
ENST00000434234.5:c.*124+1428_*124+1429insT (FBXO11) ENSP00000402692.1:n.*124+1428_*124+1429insT
ENST00000445503.5:c.*3262_*3263insA (MSH6) ENSP00000405294.1:n.*3262_*3263insA
ENST00000538136.1:c.3009_3010insA (MSH6) ENSP00000438580.1:p.Ala1004SerfsTer2
ENST00000540021.5:c.3525_3526insA (MSH6) ENSP00000446475.1:p.Ala1176SerfsTer2
ENST00000614496.4:c.3009_3010insA (MSH6) ENSP00000477844.1:p.Ala1004SerfsTer2
ENST00000622629.4:c.816_817insA (MSH6) ENSP00000482078.1:p.Ala273SerfsTer2
NM_000179.2:c.3915_3916insA , LRG_219t1:c.3915_3916insA (MSH6) NP_000170.1:p.Ala1306SerfsTer2
NM_001281492.1:c.3525_3526insA (MSH6) NP_001268421.1:p.Ala1176SerfsTer2
NM_001281493.1:c.3009_3010insA (MSH6) NP_001268422.1:p.Ala1004SerfsTer2
NM_001281494.1:c.3009_3010insA (MSH6) NP_001268423.1:p.Ala1004SerfsTer2
XM_005264271.1:c.3618_3619insA (MSH6) XP_005264328.1:p.Ala1207SerfsTer2
XM_011532798.1:c.3732_3733insA (MSH6) XP_011531100.1:p.Ala1245SerfsTer2
XM_011532799.1:c.3618_3619insA (MSH6) XP_011531101.1:p.Ala1207SerfsTer2
XM_011532800.1:c.3618_3619insA (MSH6) XP_011531102.1:p.Ala1207SerfsTer2
XM_024452819.1:c.4008_4009insA (MSH6) XP_024308587.1:p.Ala1337SerfsTer2
XM_024452820.1:c.3825_3826insA (MSH6) XP_024308588.1:p.Ala1276SerfsTer2
XM_024452821.1:c.3711_3712insA (MSH6) XP_024308589.1:p.Ala1238SerfsTer2
XM_024452822.1:c.3102_3103insA (MSH6) XP_024308590.1:p.Ala1035SerfsTer2
NM_000179.3:c.3915_3916insA (MSH6) MANE Select NP_000170.1:p.Ala1306SerfsTer2
NM_001281492.2:c.3525_3526insA (MSH6) NP_001268421.1:p.Ala1176SerfsTer2
NM_001281493.2:c.3009_3010insA (MSH6) NP_001268422.1:p.Ala1004SerfsTer2
NM_001281494.2:c.3009_3010insA (MSH6) NP_001268423.1:p.Ala1004SerfsTer2