Linked Data
ClinVar Variation Id:
18028
ClinVar RCV Id:
RCV000019644
dbSNP Id:
rs121909561
PubMed:
PMID:1932746
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909683_173909686del , CM000663.2:g.173909683_173909686del | GRCh38 |
| NC_000001.10:g.173878821_173878824del , CM000663.1:g.173878821_173878824del | GRCh37 |
| NC_000001.9:g.172145444_172145447del | NCBI36 |
| NG_012462.1:g.12695_12698del , LRG_577:g.12695_12698del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367698.4:c.1021_1024del MANE Select | ENSP00000356671.3:p.Asp341AsnfsTer5 | |
| ENST00000367698.3:c.1021_1024del | ENSP00000356671.3:p.Asp341AsnfsTer5 | |
| ENST00000617423.4:c.559+2180_559+2183del | ENSP00000478688.1:n.559+2180_559+2183del | |
| NM_000488.3:c.1021_1024del , LRG_577t1:c.1021_1024del | NP_000479.1:p.Asp341AsnfsTer5 | |
| XM_005245198.2:c.877_880del | XP_005245255.1:p.Asp293AsnfsTer5 | |
| NM_001365052.1:c.877_880del | NP_001351981.1:p.Asp293AsnfsTer5 | |
| NM_000488.4:c.1021_1024del MANE Select | NP_000479.1:p.Asp341AsnfsTer5 | |
| NM_001365052.2:c.877_880del | NP_001351981.1:p.Asp293AsnfsTer5 | |
| NM_001386302.1:c.1144_1147del | NP_001373231.1:p.Asp382AsnfsTer5 | |
| NM_001386303.1:c.1102_1105del | NP_001373232.1:p.Asp368AsnfsTer5 | |
| NM_001386304.1:c.1000_1003del | NP_001373233.1:p.Asp334AsnfsTer5 | |
| NM_001386305.1:c.964_967del | NP_001373234.1:p.Asp322AsnfsTer5 | |
| NM_001386306.1:c.805_808del | NP_001373235.1:p.Asp269AsnfsTer5 |