Canonical Allele Identifier: CA2580068074

Linked Data

ClinVar Variation Id: 1796343
ClinVar RCV Id: RCV002441717

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800795_47800797delinsTAA , CM000664.2:g.47800795_47800797delinsTAA GRCh38
NC_000002.11:g.48027934_48027936delinsTAA , CM000664.1:g.48027934_48027936delinsTAA GRCh37
NC_000002.10:g.47881438_47881440delinsTAA NCBI36
NG_007111.1:g.22649_22651delinsTAA , LRG_219:g.22649_22651delinsTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.2515_2517delinsTAA (MSH6) ENSP00000406248.2:p.Asp839Ter
ENST00000420813.6:c.2515_2517delinsTAA (MSH6) ENSP00000390382.2:p.Asp839Ter
ENST00000455383.6:c.2515_2517delinsTAA (MSH6) ENSP00000397484.2:p.Asp839Ter
ENST00000700004.2:c.2812_2814delinsTAA (MSH6) ENSP00000514752.2:p.Asp938Ter
ENST00000699999.1:n.2896_2898delinsTAA (MSH6)
ENST00000700000.1:c.1606+1206_1606+1208delinsTAA (MSH6) ENSP00000514749.1:n.1606+1206_1606+1208delinsTAA
ENST00000700002.1:c.2818_2820delinsTAA (MSH6) ENSP00000514750.1:p.Asp940Ter
ENST00000700003.1:c.628-2625_628-2623delinsTAA (MSH6) ENSP00000514751.1:n.628-2625_628-2623delinsTAA
ENST00000700004.1:c.1969_1971delinsTAA (MSH6) ENSP00000514752.1:p.Asp657Ter
ENST00000234420.11:c.2812_2814delinsTAA (MSH6) MANE Select ENSP00000234420.5:p.Asp938Ter
ENST00000540021.6:c.2422_2424delinsTAA (MSH6) ENSP00000446475.1:p.Asp808Ter
ENST00000652107.1:c.2515_2517delinsTAA (MSH6) ENSP00000498629.1:p.Asp839Ter
ENST00000673637.1:c.2515_2517delinsTAA (MSH6) ENSP00000501310.1:p.Asp839Ter
ENST00000234420.9:c.2812_2814delinsTAA (MSH6) ENSP00000234420.4:p.Asp938Ter
ENST00000405808.5:c.169+7398_169+7400delinsTTA (FBXO11) ENSP00000385127.1:n.169+7398_169+7400delinsTTA
ENST00000434234.5:c.*124+7197_*124+7199delinsTTA (FBXO11) ENSP00000402692.1:n.*124+7197_*124+7199delinsTTA
ENST00000445503.5:c.*2159_*2161delinsTAA (MSH6) ENSP00000405294.1:n.*2159_*2161delinsTAA
ENST00000538136.1:c.1906_1908delinsTAA (MSH6) ENSP00000438580.1:p.Asp636Ter
ENST00000540021.5:c.2422_2424delinsTAA (MSH6) ENSP00000446475.1:p.Asp808Ter
ENST00000614496.4:c.1906_1908delinsTAA (MSH6) ENSP00000477844.1:p.Asp636Ter
ENST00000616033.4:c.2809_2811delinsTAA (MSH6) ENSP00000480261.1:p.Asp937Ter
ENST00000622629.4:c.-285_-283delinsTAA (MSH6) ENSP00000482078.1:n.-285_-283delinsTAA
NM_000179.2:c.2812_2814delinsTAA , LRG_219t1:c.2812_2814delinsTAA (MSH6) NP_000170.1:p.Asp938Ter
NM_001281492.1:c.2422_2424delinsTAA (MSH6) NP_001268421.1:p.Asp808Ter
NM_001281493.1:c.1906_1908delinsTAA (MSH6) NP_001268422.1:p.Asp636Ter
NM_001281494.1:c.1906_1908delinsTAA (MSH6) NP_001268423.1:p.Asp636Ter
XM_005264271.1:c.2515_2517delinsTAA (MSH6) XP_005264328.1:p.Asp839Ter
XM_011532798.1:c.2629_2631delinsTAA (MSH6) XP_011531100.1:p.Asp877Ter
XM_011532799.1:c.2515_2517delinsTAA (MSH6) XP_011531101.1:p.Asp839Ter
XM_011532800.1:c.2515_2517delinsTAA (MSH6) XP_011531102.1:p.Asp839Ter
XM_024452819.1:c.2812_2814delinsTAA (MSH6) XP_024308587.1:p.Asp938Ter
XM_024452820.1:c.2629_2631delinsTAA (MSH6) XP_024308588.1:p.Asp877Ter
XM_024452821.1:c.2515_2517delinsTAA (MSH6) XP_024308589.1:p.Asp839Ter
XM_024452822.1:c.1906_1908delinsTAA (MSH6) XP_024308590.1:p.Asp636Ter
NM_000179.3:c.2812_2814delinsTAA (MSH6) MANE Select NP_000170.1:p.Asp938Ter
NM_001281492.2:c.2422_2424delinsTAA (MSH6) NP_001268421.1:p.Asp808Ter
NM_001281493.2:c.1906_1908delinsTAA (MSH6) NP_001268422.1:p.Asp636Ter
NM_001281494.2:c.1906_1908delinsTAA (MSH6) NP_001268423.1:p.Asp636Ter