Canonical Allele Identifier: CA072775

Linked Data

ClinVar Variation Id: 378173
dbSNP Id: rs755141440
gnomAD v2: 2-48033909-A-T
gnomAD v3: 2-47806770-A-T
gnomAD v4: 2-47806770-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806770A>T , CM000664.2:g.47806770A>T GRCh38
NC_000002.11:g.48033909A>T , CM000664.1:g.48033909A>T GRCh37
NC_000002.10:g.47887413A>T NCBI36
NG_007111.1:g.28624A>T , LRG_219:g.28624A>T
NG_008397.1:g.103906T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3705-9A>T (MSH6) ENSP00000406248.2:n.3705-9A>T
ENST00000420813.6:c.3705-9A>T (MSH6) ENSP00000390382.2:n.3705-9A>T
ENST00000455383.6:c.3705-9A>T (MSH6) ENSP00000397484.2:n.3705-9A>T
ENST00000700004.2:c.3618-9A>T (MSH6) ENSP00000514752.2:n.3618-9A>T
ENST00000699999.1:n.4676-9A>T (MSH6)
ENST00000700000.1:c.2436-9A>T (MSH6) ENSP00000514749.1:n.2436-9A>T
ENST00000700002.1:c.4008-9A>T (MSH6) ENSP00000514750.1:n.4008-9A>T
ENST00000700003.1:c.1457-9A>T (MSH6) ENSP00000514751.1:n.1457-9A>T
ENST00000700004.1:c.2775-9A>T (MSH6) ENSP00000514752.1:n.2775-9A>T
ENST00000700005.1:n.2971A>T (MSH6)
ENST00000700007.1:n.2597-9A>T (MSH6)
ENST00000700008.1:n.2264-9A>T (MSH6)
ENST00000700009.1:n.2666-9A>T (MSH6)
ENST00000700010.1:n.1411-9A>T (MSH6)
ENST00000700011.1:n.3296-9A>T (MSH6)
ENST00000682451.1:n.3978T>A (FBXO11)
ENST00000684712.1:n.4240T>A (FBXO11)
ENST00000234420.11:c.4002-9A>T (MSH6) MANE Select ENSP00000234420.5:n.4002-9A>T
ENST00000540021.6:c.3612-9A>T (MSH6) ENSP00000446475.1:n.3612-9A>T
ENST00000652107.1:c.3705-9A>T (MSH6) ENSP00000498629.1:n.3705-9A>T
ENST00000673637.1:c.3705-9A>T (MSH6) ENSP00000501310.1:n.3705-9A>T
ENST00000234420.9:c.4002-9A>T (MSH6) ENSP00000234420.4:n.4002-9A>T
ENST00000405808.5:c.169+1425T>A (FBXO11) ENSP00000385127.1:n.169+1425T>A
ENST00000434234.5:c.*124+1224T>A (FBXO11) ENSP00000402692.1:n.*124+1224T>A
ENST00000445503.5:c.*3349-9A>T (MSH6) ENSP00000405294.1:n.*3349-9A>T
ENST00000465204.5:n.3140T>A (FBXO11)
ENST00000538136.1:c.3096-9A>T (MSH6) ENSP00000438580.1:n.3096-9A>T
ENST00000540021.5:c.3612-9A>T (MSH6) ENSP00000446475.1:n.3612-9A>T
ENST00000614496.4:c.3096-9A>T (MSH6) ENSP00000477844.1:n.3096-9A>T
ENST00000622629.4:c.903-9A>T (MSH6) ENSP00000482078.1:n.903-9A>T
NM_000179.2:c.4002-9A>T , LRG_219t1:c.4002-9A>T (MSH6) NP_000170.1:n.4002-9A>T
NM_001281492.1:c.3612-9A>T (MSH6) NP_001268421.1:n.3612-9A>T
NM_001281493.1:c.3096-9A>T (MSH6) NP_001268422.1:n.3096-9A>T
NM_001281494.1:c.3096-9A>T (MSH6) NP_001268423.1:n.3096-9A>T
XM_005264271.1:c.3705-9A>T (MSH6) XP_005264328.1:n.3705-9A>T
XM_011532798.1:c.3819-9A>T (MSH6) XP_011531100.1:n.3819-9A>T
XM_011532799.1:c.3705-9A>T (MSH6) XP_011531101.1:n.3705-9A>T
XM_011532800.1:c.3705-9A>T (MSH6) XP_011531102.1:n.3705-9A>T
XM_024452819.1:c.4095-9A>T (MSH6) XP_024308587.1:n.4095-9A>T
XM_024452820.1:c.3912-9A>T (MSH6) XP_024308588.1:n.3912-9A>T
XM_024452821.1:c.3798-9A>T (MSH6) XP_024308589.1:n.3798-9A>T
XM_024452822.1:c.3189-9A>T (MSH6) XP_024308590.1:n.3189-9A>T
NM_000179.3:c.4002-9A>T (MSH6) MANE Select NP_000170.1:n.4002-9A>T
NM_001281492.2:c.3612-9A>T (MSH6) NP_001268421.1:n.3612-9A>T
NM_001281493.2:c.3096-9A>T (MSH6) NP_001268422.1:n.3096-9A>T
NM_001281494.2:c.3096-9A>T (MSH6) NP_001268423.1:n.3096-9A>T