Canonical Allele Identifier: CA2580611376

Linked Data

ClinVar Variation Id: 1616604
ClinVar RCV Id: RCV002084430
dbSNP Id: rs2104503369

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47804898_47804901del , CM000664.2:g.47804898_47804901del GRCh38
NC_000002.11:g.48032037_48032040del , CM000664.1:g.48032037_48032040del GRCh37
NC_000002.10:g.47885541_47885544del NCBI36
NG_007111.1:g.26752_26755del , LRG_219:g.26752_26755del

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3142-12_3142-9del (MSH6) ENSP00000406248.2:n.3142-12_3142-9del
ENST00000420813.6:c.3142-12_3142-9del (MSH6) ENSP00000390382.2:n.3142-12_3142-9del
ENST00000455383.6:c.3142-12_3142-9del (MSH6) ENSP00000397484.2:n.3142-12_3142-9del
ENST00000700004.2:c.3173-720_3173-717del (MSH6) ENSP00000514752.2:n.3173-720_3173-717del
ENST00000699999.1:n.3523-12_3523-9del (MSH6)
ENST00000700000.1:c.1873-12_1873-9del (MSH6) ENSP00000514749.1:n.1873-12_1873-9del
ENST00000700002.1:c.3445-12_3445-9del (MSH6) ENSP00000514750.1:n.3445-12_3445-9del
ENST00000700003.1:c.894-12_894-9del (MSH6) ENSP00000514751.1:n.894-12_894-9del
ENST00000700004.1:c.2330-720_2330-717del (MSH6) ENSP00000514752.1:n.2330-720_2330-717del
ENST00000700005.1:n.2290-12_2290-9del (MSH6)
ENST00000700006.1:n.3499_3502del (MSH6)
ENST00000700007.1:n.1444-12_1444-9del (MSH6)
ENST00000700008.1:n.1018-12_1018-9del (MSH6)
ENST00000700009.1:n.1017-12_1017-9del (MSH6)
ENST00000700010.1:n.848-12_848-9del (MSH6)
ENST00000700011.1:n.2131_2134del (MSH6)
ENST00000234420.11:c.3439-12_3439-9del (MSH6) MANE Select ENSP00000234420.5:n.3439-12_3439-9del
ENST00000540021.6:c.3049-12_3049-9del (MSH6) ENSP00000446475.1:n.3049-12_3049-9del
ENST00000652107.1:c.3142-12_3142-9del (MSH6) ENSP00000498629.1:n.3142-12_3142-9del
ENST00000673637.1:c.3142-12_3142-9del (MSH6) ENSP00000501310.1:n.3142-12_3142-9del
ENST00000234420.9:c.3439-12_3439-9del (MSH6) ENSP00000234420.4:n.3439-12_3439-9del
ENST00000405808.5:c.169+3298_169+3301del (FBXO11) ENSP00000385127.1:n.169+3298_169+3301del
ENST00000434234.5:c.*124+3097_*124+3100del (FBXO11) ENSP00000402692.1:n.*124+3097_*124+3100de...
ENST00000445503.5:c.*2786-12_*2786-9del (MSH6) ENSP00000405294.1:n.*2786-12_*2786-9del
ENST00000538136.1:c.2533-12_2533-9del (MSH6) ENSP00000438580.1:n.2533-12_2533-9del
ENST00000540021.5:c.3049-12_3049-9del (MSH6) ENSP00000446475.1:n.3049-12_3049-9del
ENST00000614496.4:c.2533-12_2533-9del (MSH6) ENSP00000477844.1:n.2533-12_2533-9del
ENST00000622629.4:c.335-4_335-1del (MSH6) ENSP00000482078.1:n.335-4_335-1del
NM_000179.2:c.3439-12_3439-9del , LRG_219t1:c.3439-12_3439-9del (MSH6) NP_000170.1:n.3439-12_3439-9del
NM_001281492.1:c.3049-12_3049-9del (MSH6) NP_001268421.1:n.3049-12_3049-9del
NM_001281493.1:c.2533-12_2533-9del (MSH6) NP_001268422.1:n.2533-12_2533-9del
NM_001281494.1:c.2533-12_2533-9del (MSH6) NP_001268423.1:n.2533-12_2533-9del
XM_005264271.1:c.3142-12_3142-9del (MSH6) XP_005264328.1:n.3142-12_3142-9del
XM_011532798.1:c.3256-12_3256-9del (MSH6) XP_011531100.1:n.3256-12_3256-9del
XM_011532799.1:c.3142-12_3142-9del (MSH6) XP_011531101.1:n.3142-12_3142-9del
XM_011532800.1:c.3142-12_3142-9del (MSH6) XP_011531102.1:n.3142-12_3142-9del
XM_024452819.1:c.3439-12_3439-9del (MSH6) XP_024308587.1:n.3439-12_3439-9del
XM_024452820.1:c.3256-12_3256-9del (MSH6) XP_024308588.1:n.3256-12_3256-9del
XM_024452821.1:c.3142-12_3142-9del (MSH6) XP_024308589.1:n.3142-12_3142-9del
XM_024452822.1:c.2533-12_2533-9del (MSH6) XP_024308590.1:n.2533-12_2533-9del
NM_000179.3:c.3439-12_3439-9del (MSH6) MANE Select NP_000170.1:n.3439-12_3439-9del
NM_001281492.2:c.3049-12_3049-9del (MSH6) NP_001268421.1:n.3049-12_3049-9del
NM_001281493.2:c.2533-12_2533-9del (MSH6) NP_001268422.1:n.2533-12_2533-9del
NM_001281494.2:c.2533-12_2533-9del (MSH6) NP_001268423.1:n.2533-12_2533-9del