Canonical Allele Identifier: CA2580067189

Linked Data

ClinVar Variation Id: 1732303
ClinVar RCV Id: RCV002459357

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804997_47805009del , CM000664.2:g.47804997_47805009del GRCh38
NC_000002.11:g.48032136_48032148del , CM000664.1:g.48032136_48032148del GRCh37
NC_000002.10:g.47885640_47885652del NCBI36
NG_007111.1:g.26851_26863del , LRG_219:g.26851_26863del
NG_008397.1:g.105669_105681del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3229_3241del (MSH6) ENSP00000406248.2:p.Arg1077GlnfsTer4
ENST00000420813.6:c.3229_3241del (MSH6) ENSP00000390382.2:p.Arg1077GlnfsTer4
ENST00000455383.6:c.3229_3241del (MSH6) ENSP00000397484.2:p.Arg1077GlnfsTer4
ENST00000700004.2:c.3173-621_3173-609del (MSH6) ENSP00000514752.2:n.3173-621_3173-609del
ENST00000699999.1:n.3610_3622del (MSH6)
ENST00000700000.1:c.1960_1972del (MSH6) ENSP00000514749.1:p.Arg654GlnfsTer4
ENST00000700002.1:c.3532_3544del (MSH6) ENSP00000514750.1:p.Arg1178GlnfsTer4
ENST00000700003.1:c.981_993del (MSH6) ENSP00000514751.1:n.981_993del
ENST00000700004.1:c.2330-621_2330-609del (MSH6) ENSP00000514752.1:n.2330-621_2330-609del
ENST00000700005.1:n.2377_2389del (MSH6)
ENST00000700006.1:n.3598_3610del (MSH6)
ENST00000700007.1:n.1531_1543del (MSH6)
ENST00000700008.1:n.1105_1117del (MSH6)
ENST00000700009.1:n.1104_1116del (MSH6)
ENST00000700010.1:n.935_947del (MSH6)
ENST00000700011.1:n.2230_2242del (MSH6)
ENST00000234420.11:c.3526_3538del (MSH6) MANE Select ENSP00000234420.5:p.Arg1176GlnfsTer4
ENST00000540021.6:c.3136_3148del (MSH6) ENSP00000446475.1:p.Arg1046GlnfsTer4
ENST00000652107.1:c.3229_3241del (MSH6) ENSP00000498629.1:p.Arg1077GlnfsTer4
ENST00000673637.1:c.3229_3241del (MSH6) ENSP00000501310.1:p.Arg1077GlnfsTer4
ENST00000234420.9:c.3526_3538del (MSH6) ENSP00000234420.4:p.Arg1176GlnfsTer4
ENST00000405808.5:c.169+3188_169+3200del (FBXO11) ENSP00000385127.1:n.169+3188_169+3200del
ENST00000434234.5:c.*124+2987_*124+2999del (FBXO11) ENSP00000402692.1:n.*124+2987_*124+2999de...
ENST00000445503.5:c.*2873_*2885del (MSH6) ENSP00000405294.1:n.*2873_*2885del
ENST00000538136.1:c.2620_2632del (MSH6) ENSP00000438580.1:p.Arg874GlnfsTer4
ENST00000540021.5:c.3136_3148del (MSH6) ENSP00000446475.1:p.Arg1046GlnfsTer4
ENST00000614496.4:c.2620_2632del (MSH6) ENSP00000477844.1:p.Arg874GlnfsTer4
ENST00000622629.4:c.430_442del (MSH6) ENSP00000482078.1:p.Arg144GlnfsTer4
NM_000179.2:c.3526_3538del , LRG_219t1:c.3526_3538del (MSH6) NP_000170.1:p.Arg1176GlnfsTer4
NM_001281492.1:c.3136_3148del (MSH6) NP_001268421.1:p.Arg1046GlnfsTer4
NM_001281493.1:c.2620_2632del (MSH6) NP_001268422.1:p.Arg874GlnfsTer4
NM_001281494.1:c.2620_2632del (MSH6) NP_001268423.1:p.Arg874GlnfsTer4
XM_005264271.1:c.3229_3241del (MSH6) XP_005264328.1:p.Arg1077GlnfsTer4
XM_011532798.1:c.3343_3355del (MSH6) XP_011531100.1:p.Arg1115GlnfsTer4
XM_011532799.1:c.3229_3241del (MSH6) XP_011531101.1:p.Arg1077GlnfsTer4
XM_011532800.1:c.3229_3241del (MSH6) XP_011531102.1:p.Arg1077GlnfsTer4
XM_024452819.1:c.3526_3538del (MSH6) XP_024308587.1:p.Arg1176GlnfsTer4
XM_024452820.1:c.3343_3355del (MSH6) XP_024308588.1:p.Arg1115GlnfsTer4
XM_024452821.1:c.3229_3241del (MSH6) XP_024308589.1:p.Arg1077GlnfsTer4
XM_024452822.1:c.2620_2632del (MSH6) XP_024308590.1:p.Arg874GlnfsTer4
NM_000179.3:c.3526_3538del (MSH6) MANE Select NP_000170.1:p.Arg1176GlnfsTer4
NM_001281492.2:c.3136_3148del (MSH6) NP_001268421.1:p.Arg1046GlnfsTer4
NM_001281493.2:c.2620_2632del (MSH6) NP_001268422.1:p.Arg874GlnfsTer4
NM_001281494.2:c.2620_2632del (MSH6) NP_001268423.1:p.Arg874GlnfsTer4