Linked Data
ClinVar Variation Id:
89495
ClinVar RCV Id:
RCV000074963
dbSNP Id:
rs267608124
MyVariant Identifiers:
chr2:g.48033773_48033774insATCA (hg19)
chr2:g.47806634_47806635insATCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806634_47806635insATCA , CM000664.2:g.47806634_47806635insATCA | GRCh38 |
| NC_000002.11:g.48033773_48033774insATCA , CM000664.1:g.48033773_48033774insATCA | GRCh37 |
| NC_000002.10:g.47887277_47887278insATCA | NCBI36 |
| NG_007111.1:g.28488_28489insATCA , LRG_219:g.28488_28489insATCA | |
| NG_008397.1:g.104041_104042insTGAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411819.2:c.3687_3688insATCA (MSH6) | ENSP00000406248.2:p.Ser1230IlefsTer13 | |
| ENST00000420813.6:c.3687_3688insATCA (MSH6) | ENSP00000390382.2:p.Ser1230IlefsTer13 | |
| ENST00000455383.6:c.3687_3688insATCA (MSH6) | ENSP00000397484.2:p.Ser1230IlefsTer13 | |
| ENST00000700004.2:c.3600_3601insATCA (MSH6) | ENSP00000514752.2:p.Ser1201IlefsTer13 | |
| ENST00000699999.1:n.4658_4659insATCA (MSH6) | ||
| ENST00000700000.1:c.2418_2419insATCA (MSH6) | ENSP00000514749.1:p.Ser807IlefsTer13 | |
| ENST00000700002.1:c.3990_3991insATCA (MSH6) | ENSP00000514750.1:p.Ser1331IlefsTer13 | |
| ENST00000700003.1:c.1439_1440insATCA (MSH6) | ENSP00000514751.1:n.1439_1440insATCA | |
| ENST00000700004.1:c.2757_2758insATCA (MSH6) | ENSP00000514752.1:p.Ser920IlefsTer13 | |
| ENST00000700005.1:n.2835_2836insATCA (MSH6) | ||
| ENST00000700006.1:n.5142_5143insATCA (MSH6) | ||
| ENST00000700007.1:n.2579_2580insATCA (MSH6) | ||
| ENST00000700008.1:n.2246_2247insATCA (MSH6) | ||
| ENST00000700009.1:n.2648_2649insATCA (MSH6) | ||
| ENST00000700010.1:n.1393_1394insATCA (MSH6) | ||
| ENST00000700011.1:n.3278_3279insATCA (MSH6) | ||
| ENST00000682451.1:n.4113_4114insTGAT (FBXO11) | ||
| ENST00000684712.1:n.4375_4376insTGAT (FBXO11) | ||
| ENST00000234420.11:c.3984_3985insATCA (MSH6) MANE Select | ENSP00000234420.5:p.Ser1329IlefsTer13 | |
| ENST00000540021.6:c.3594_3595insATCA (MSH6) | ENSP00000446475.1:p.Ser1199IlefsTer13 | |
| ENST00000652107.1:c.3687_3688insATCA (MSH6) | ENSP00000498629.1:p.Ser1230IlefsTer13 | |
| ENST00000673637.1:c.3687_3688insATCA (MSH6) | ENSP00000501310.1:p.Ser1230IlefsTer13 | |
| ENST00000234420.9:c.3984_3985insATCA (MSH6) | ENSP00000234420.4:p.Ser1329IlefsTer13 | |
| ENST00000405808.5:c.169+1560_169+1561insTGAT (FBXO11) | ENSP00000385127.1:n.169+1560_169+1561insT... | |
| ENST00000434234.5:c.*124+1359_*124+1360insTGAT (FBXO11) | ENSP00000402692.1:n.*124+1359_*124+1360in... | |
| ENST00000445503.5:c.*3331_*3332insATCA (MSH6) | ENSP00000405294.1:n.*3331_*3332insATCA | |
| ENST00000538136.1:c.3078_3079insATCA (MSH6) | ENSP00000438580.1:p.Ser1027IlefsTer13 | |
| ENST00000540021.5:c.3594_3595insATCA (MSH6) | ENSP00000446475.1:p.Ser1199IlefsTer13 | |
| ENST00000614496.4:c.3078_3079insATCA (MSH6) | ENSP00000477844.1:p.Ser1027IlefsTer13 | |
| ENST00000622629.4:c.885_886insATCA (MSH6) | ENSP00000482078.1:p.Ser296IlefsTer13 | |
| NM_000179.2:c.3984_3985insATCA , LRG_219t1:c.3984_3985insATCA (MSH6) | NP_000170.1:p.Ser1329IlefsTer13 | |
| NM_001281492.1:c.3594_3595insATCA (MSH6) | NP_001268421.1:p.Ser1199IlefsTer13 | |
| NM_001281493.1:c.3078_3079insATCA (MSH6) | NP_001268422.1:p.Ser1027IlefsTer13 | |
| NM_001281494.1:c.3078_3079insATCA (MSH6) | NP_001268423.1:p.Ser1027IlefsTer13 | |
| XM_005264271.1:c.3687_3688insATCA (MSH6) | XP_005264328.1:p.Ser1230IlefsTer13 | |
| XM_011532798.1:c.3801_3802insATCA (MSH6) | XP_011531100.1:p.Ser1268IlefsTer13 | |
| XM_011532799.1:c.3687_3688insATCA (MSH6) | XP_011531101.1:p.Ser1230IlefsTer13 | |
| XM_011532800.1:c.3687_3688insATCA (MSH6) | XP_011531102.1:p.Ser1230IlefsTer13 | |
| XM_024452819.1:c.4077_4078insATCA (MSH6) | XP_024308587.1:p.Ser1360IlefsTer13 | |
| XM_024452820.1:c.3894_3895insATCA (MSH6) | XP_024308588.1:p.Ser1299IlefsTer13 | |
| XM_024452821.1:c.3780_3781insATCA (MSH6) | XP_024308589.1:p.Ser1261IlefsTer13 | |
| XM_024452822.1:c.3171_3172insATCA (MSH6) | XP_024308590.1:p.Ser1058IlefsTer13 | |
| NM_000179.3:c.3984_3985insATCA (MSH6) MANE Select | NP_000170.1:p.Ser1329IlefsTer13 | |
| NM_001281492.2:c.3594_3595insATCA (MSH6) | NP_001268421.1:p.Ser1199IlefsTer13 | |
| NM_001281493.2:c.3078_3079insATCA (MSH6) | NP_001268422.1:p.Ser1027IlefsTer13 | |
| NM_001281494.2:c.3078_3079insATCA (MSH6) | NP_001268423.1:p.Ser1027IlefsTer13 |