Linked Data
ClinVar Variation Id:
233410
ClinVar RCV Id:
RCV000220311
dbSNP Id:
rs876660386
MyVariant Identifiers:
chr2:g.48027194_48027195delinsATTA (hg19)
chr2:g.47800055_47800056delinsATTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47800055_47800056delinsATTA , CM000664.2:g.47800055_47800056delinsATTA | GRCh38 |
| NC_000002.11:g.48027194_48027195delinsATTA , CM000664.1:g.48027194_48027195delinsATTA | GRCh37 |
| NC_000002.10:g.47880698_47880699delinsATTA | NCBI36 |
| NG_007111.1:g.21909_21910delinsATTA , LRG_219:g.21909_21910delinsATTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.1775_1776delinsATTA (MSH6) | ENSP00000406248.2:p.Leu592HisfsTer2 | |
| ENST00000420813.6:c.1775_1776delinsATTA (MSH6) | ENSP00000390382.2:p.Leu592HisfsTer2 | |
| ENST00000455383.6:c.1775_1776delinsATTA (MSH6) | ENSP00000397484.2:p.Leu592HisfsTer2 | |
| ENST00000700004.2:c.2072_2073delinsATTA (MSH6) | ENSP00000514752.2:p.Leu691HisfsTer2 | |
| ENST00000699999.1:n.2156_2157delinsATTA (MSH6) | ||
| ENST00000700000.1:c.1606+466_1606+467delinsATTA (MSH6) | ENSP00000514749.1:n.1606+466_1606+467delinsATTA | |
| ENST00000700002.1:c.2078_2079delinsATTA (MSH6) | ENSP00000514750.1:p.Leu693HisfsTer2 | |
| ENST00000700003.1:c.628-3365_628-3364delinsATTA (MSH6) | ENSP00000514751.1:n.628-3365_628-3364delinsATTA | |
| ENST00000700004.1:c.1229_1230delinsATTA (MSH6) | ENSP00000514752.1:p.Leu410HisfsTer2 | |
| ENST00000234420.11:c.2072_2073delinsATTA (MSH6) MANE Select | ENSP00000234420.5:p.Leu691HisfsTer2 | |
| ENST00000540021.6:c.1682_1683delinsATTA (MSH6) | ENSP00000446475.1:p.Leu561HisfsTer2 | |
| ENST00000652107.1:c.1775_1776delinsATTA (MSH6) | ENSP00000498629.1:p.Leu592HisfsTer2 | |
| ENST00000673637.1:c.1775_1776delinsATTA (MSH6) | ENSP00000501310.1:p.Leu592HisfsTer2 | |
| ENST00000234420.9:c.2072_2073delinsATTA (MSH6) | ENSP00000234420.4:p.Leu691HisfsTer2 | |
| ENST00000405808.5:c.169+8139_169+8140delinsTAAT (FBXO11) | ENSP00000385127.1:n.169+8139_169+8140delinsTAAT | |
| ENST00000434234.5:c.*124+7938_*124+7939delinsTAAT (FBXO11) | ENSP00000402692.1:n.*124+7938_*124+7939delinsTAAT | |
| ENST00000445503.5:c.*1419_*1420delinsATTA (MSH6) | ENSP00000405294.1:n.*1419_*1420delinsATTA | |
| ENST00000538136.1:c.1166_1167delinsATTA (MSH6) | ENSP00000438580.1:p.Leu389HisfsTer2 | |
| ENST00000540021.5:c.1682_1683delinsATTA (MSH6) | ENSP00000446475.1:p.Leu561HisfsTer2 | |
| ENST00000614496.4:c.1166_1167delinsATTA (MSH6) | ENSP00000477844.1:p.Leu389HisfsTer2 | |
| ENST00000616033.4:c.2069_2070delinsATTA (MSH6) | ENSP00000480261.1:p.Leu690HisfsTer2 | |
| ENST00000622629.4:c.-1025_-1024delinsATTA (MSH6) | ENSP00000482078.1:n.-1025_-1024delinsATTA | |
| NM_000179.2:c.2072_2073delinsATTA , LRG_219t1:c.2072_2073delinsATTA (MSH6) | NP_000170.1:p.Leu691HisfsTer2 | |
| NM_001281492.1:c.1682_1683delinsATTA (MSH6) | NP_001268421.1:p.Leu561HisfsTer2 | |
| NM_001281493.1:c.1166_1167delinsATTA (MSH6) | NP_001268422.1:p.Leu389HisfsTer2 | |
| NM_001281494.1:c.1166_1167delinsATTA (MSH6) | NP_001268423.1:p.Leu389HisfsTer2 | |
| XM_005264271.1:c.1775_1776delinsATTA (MSH6) | XP_005264328.1:p.Leu592HisfsTer2 | |
| XM_011532798.1:c.1889_1890delinsATTA (MSH6) | XP_011531100.1:p.Leu630HisfsTer2 | |
| XM_011532799.1:c.1775_1776delinsATTA (MSH6) | XP_011531101.1:p.Leu592HisfsTer2 | |
| XM_011532800.1:c.1775_1776delinsATTA (MSH6) | XP_011531102.1:p.Leu592HisfsTer2 | |
| XM_024452819.1:c.2072_2073delinsATTA (MSH6) | XP_024308587.1:p.Leu691HisfsTer2 | |
| XM_024452820.1:c.1889_1890delinsATTA (MSH6) | XP_024308588.1:p.Leu630HisfsTer2 | |
| XM_024452821.1:c.1775_1776delinsATTA (MSH6) | XP_024308589.1:p.Leu592HisfsTer2 | |
| XM_024452822.1:c.1166_1167delinsATTA (MSH6) | XP_024308590.1:p.Leu389HisfsTer2 | |
| NM_000179.3:c.2072_2073delinsATTA (MSH6) MANE Select | NP_000170.1:p.Leu691HisfsTer2 | |
| NM_001281492.2:c.1682_1683delinsATTA (MSH6) | NP_001268421.1:p.Leu561HisfsTer2 | |
| NM_001281493.2:c.1166_1167delinsATTA (MSH6) | NP_001268422.1:p.Leu389HisfsTer2 | |
| NM_001281494.2:c.1166_1167delinsATTA (MSH6) | NP_001268423.1:p.Leu389HisfsTer2 |