Canonical Allele Identifier: CA2573134815

Linked Data

ClinVar Variation Id: 1581509
ClinVar RCV Id: RCV002097285
dbSNP Id: rs2104585063

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806846_47806900dup , CM000664.2:g.47806846_47806900dup GRCh38
NC_000002.11:g.48033985_48034039dup , CM000664.1:g.48033985_48034039dup GRCh37
NC_000002.10:g.47887489_47887543dup NCBI36
NG_007111.1:g.28700_28754dup , LRG_219:g.28700_28754dup
NG_008397.1:g.103777_103831dup

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3772_*40dup (MSH6) ENSP00000406248.2:n.3772_*40dup
ENST00000420813.6:c.3772_*40dup (MSH6) ENSP00000390382.2:n.3772_*40dup
ENST00000455383.6:c.3772_*40dup (MSH6) ENSP00000397484.2:n.3772_*40dup
ENST00000700004.2:c.3685_*40dup (MSH6) ENSP00000514752.2:n.3685_*40dup
ENST00000699999.1:n.4743_4797dup (MSH6)
ENST00000700000.1:c.2503_*40dup (MSH6) ENSP00000514749.1:n.2503_*40dup
ENST00000700002.1:c.4075_*40dup (MSH6) ENSP00000514750.1:n.4075_*40dup
ENST00000700003.1:c.1524_1578dup (MSH6) ENSP00000514751.1:n.1524_1578dup
ENST00000700004.1:c.2842_2896dup (MSH6) ENSP00000514752.1:n.2842_2896dup
ENST00000700007.1:n.2664_2718dup (MSH6)
ENST00000700008.1:n.2331_2385dup (MSH6)
ENST00000700009.1:n.2733_2787dup (MSH6)
ENST00000700010.1:n.1478_1532dup (MSH6)
ENST00000700011.1:n.3363_3417dup (MSH6)
ENST00000682451.1:n.3849_3903dup (FBXO11)
ENST00000684712.1:n.4111_4165dup (FBXO11)
ENST00000234420.11:c.4069_*40dup (MSH6) MANE Select ENSP00000234420.5:n.4069_*40dup
ENST00000540021.6:c.3679_*40dup (MSH6) ENSP00000446475.1:n.3679_*40dup
ENST00000652107.1:c.3772_*40dup (MSH6) ENSP00000498629.1:n.3772_*40dup
ENST00000673637.1:c.3772_*40dup (MSH6) ENSP00000501310.1:n.3772_*40dup
ENST00000234420.9:c.4069_*40dup (MSH6) ENSP00000234420.4:n.4069_*40dup
ENST00000405808.5:c.169+1296_169+1350dup (FBXO11) ENSP00000385127.1:n.169+1296_169+1350dup
ENST00000434234.5:c.*124+1095_*124+1149dup (FBXO11) ENSP00000402692.1:n.*124+1095_*124+1149dup
ENST00000445503.5:c.*3416_*3470dup (MSH6) ENSP00000405294.1:n.*3416_*3470dup
ENST00000465204.5:n.3011_3065dup (FBXO11)
ENST00000538136.1:c.3163_*40dup (MSH6) ENSP00000438580.1:n.3163_*40dup
ENST00000540021.5:c.3679_*40dup (MSH6) ENSP00000446475.1:n.3679_*40dup
ENST00000614496.4:c.3163_*40dup (MSH6) ENSP00000477844.1:n.3163_*40dup
ENST00000622629.4:c.970_*40dup (MSH6) ENSP00000482078.1:n.970_*40dup
NM_000179.2:c.4069_*40dup , LRG_219t1:c.4069_*40dup (MSH6) NP_000170.1:n.4069_*40dup
NM_001281492.1:c.3679_*40dup (MSH6) NP_001268421.1:n.3679_*40dup
NM_001281493.1:c.3163_*40dup (MSH6) NP_001268422.1:n.3163_*40dup
NM_001281494.1:c.3163_*40dup (MSH6) NP_001268423.1:n.3163_*40dup
XM_005264271.1:c.3772_*40dup (MSH6) XP_005264328.1:n.3772_*40dup
XM_011532798.1:c.3886_*40dup (MSH6) XP_011531100.1:n.3886_*40dup
XM_011532799.1:c.3772_*40dup (MSH6) XP_011531101.1:n.3772_*40dup
XM_011532800.1:c.3772_*40dup (MSH6) XP_011531102.1:n.3772_*40dup
XM_024452819.1:c.4162_*40dup (MSH6) XP_024308587.1:n.4162_*40dup
XM_024452820.1:c.3979_*40dup (MSH6) XP_024308588.1:n.3979_*40dup
XM_024452821.1:c.3865_*40dup (MSH6) XP_024308589.1:n.3865_*40dup
XM_024452822.1:c.3256_*40dup (MSH6) XP_024308590.1:n.3256_*40dup
NM_000179.3:c.4069_*40dup (MSH6) MANE Select NP_000170.1:n.4069_*40dup
NM_001281492.2:c.3679_*40dup (MSH6) NP_001268421.1:n.3679_*40dup
NM_001281493.2:c.3163_*40dup (MSH6) NP_001268422.1:n.3163_*40dup
NM_001281494.2:c.3163_*40dup (MSH6) NP_001268423.1:n.3163_*40dup