Canonical Allele Identifier: CA915943938

Linked Data

ClinVar Variation Id: 821967
ClinVar RCV Id: RCV001016915
dbSNP Id: rs1572729155

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800883_47800884delinsGT , CM000664.2:g.47800883_47800884delinsGT GRCh38
NC_000002.11:g.48028022_48028023delinsGT , CM000664.1:g.48028022_48028023delinsGT GRCh37
NC_000002.10:g.47881526_47881527delinsGT NCBI36
NG_007111.1:g.22737_22738delinsGT , LRG_219:g.22737_22738delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.2603_2604delinsGT (MSH6) ENSP00000406248.2:p.Ile868Ser
ENST00000420813.6:c.2603_2604delinsGT (MSH6) ENSP00000390382.2:p.Ile868Ser
ENST00000455383.6:c.2603_2604delinsGT (MSH6) ENSP00000397484.2:p.Ile868Ser
ENST00000700004.2:c.2900_2901delinsGT (MSH6) ENSP00000514752.2:p.Ile967Ser
ENST00000699999.1:n.2984_2985delinsGT (MSH6)
ENST00000700000.1:c.1606+1294_1606+1295delinsGT (MSH6) ENSP00000514749.1:n.1606+1294_1606+1295de...
ENST00000700002.1:c.2906_2907delinsGT (MSH6) ENSP00000514750.1:p.Ile969Ser
ENST00000700003.1:c.628-2537_628-2536delinsGT (MSH6) ENSP00000514751.1:n.628-2537_628-2536deli...
ENST00000700004.1:c.2057_2058delinsGT (MSH6) ENSP00000514752.1:p.Ile686Ser
ENST00000234420.11:c.2900_2901delinsGT (MSH6) MANE Select ENSP00000234420.5:p.Ile967Ser
ENST00000540021.6:c.2510_2511delinsGT (MSH6) ENSP00000446475.1:p.Ile837Ser
ENST00000652107.1:c.2603_2604delinsGT (MSH6) ENSP00000498629.1:p.Ile868Ser
ENST00000673637.1:c.2603_2604delinsGT (MSH6) ENSP00000501310.1:p.Ile868Ser
ENST00000234420.9:c.2900_2901delinsGT (MSH6) ENSP00000234420.4:p.Ile967Ser
ENST00000405808.5:c.169+7311_169+7312delinsAC (FBXO11) ENSP00000385127.1:n.169+7311_169+7312deli...
ENST00000434234.5:c.*124+7110_*124+7111delinsAC (FBXO11) ENSP00000402692.1:n.*124+7110_*124+7111de...
ENST00000445503.5:c.*2247_*2248delinsGT (MSH6) ENSP00000405294.1:n.*2247_*2248delinsGT
ENST00000538136.1:c.1994_1995delinsGT (MSH6) ENSP00000438580.1:p.Ile665Ser
ENST00000540021.5:c.2510_2511delinsGT (MSH6) ENSP00000446475.1:p.Ile837Ser
ENST00000614496.4:c.1994_1995delinsGT (MSH6) ENSP00000477844.1:p.Ile665Ser
ENST00000616033.4:c.2897_2898delinsGT (MSH6) ENSP00000480261.1:p.Ile966Ser
ENST00000622629.4:c.-197_-196delinsGT (MSH6) ENSP00000482078.1:n.-197_-196delinsGT
NM_000179.2:c.2900_2901delinsGT , LRG_219t1:c.2900_2901delinsGT (MSH6) NP_000170.1:p.Ile967Ser
NM_001281492.1:c.2510_2511delinsGT (MSH6) NP_001268421.1:p.Ile837Ser
NM_001281493.1:c.1994_1995delinsGT (MSH6) NP_001268422.1:p.Ile665Ser
NM_001281494.1:c.1994_1995delinsGT (MSH6) NP_001268423.1:p.Ile665Ser
XM_005264271.1:c.2603_2604delinsGT (MSH6) XP_005264328.1:p.Ile868Ser
XM_011532798.1:c.2717_2718delinsGT (MSH6) XP_011531100.1:p.Ile906Ser
XM_011532799.1:c.2603_2604delinsGT (MSH6) XP_011531101.1:p.Ile868Ser
XM_011532800.1:c.2603_2604delinsGT (MSH6) XP_011531102.1:p.Ile868Ser
XM_024452819.1:c.2900_2901delinsGT (MSH6) XP_024308587.1:p.Ile967Ser
XM_024452820.1:c.2717_2718delinsGT (MSH6) XP_024308588.1:p.Ile906Ser
XM_024452821.1:c.2603_2604delinsGT (MSH6) XP_024308589.1:p.Ile868Ser
XM_024452822.1:c.1994_1995delinsGT (MSH6) XP_024308590.1:p.Ile665Ser
NM_000179.3:c.2900_2901delinsGT (MSH6) MANE Select NP_000170.1:p.Ile967Ser
NM_001281492.2:c.2510_2511delinsGT (MSH6) NP_001268421.1:p.Ile837Ser
NM_001281493.2:c.1994_1995delinsGT (MSH6) NP_001268422.1:p.Ile665Ser
NM_001281494.2:c.1994_1995delinsGT (MSH6) NP_001268423.1:p.Ile665Ser