Linked Data
ClinVar Variation Id:
2915
ClinVar RCV Id:
RCV000003049
dbSNP Id:
rs730880268
gnomAD v4:
17-74920648-ATG-A
PubMed:
PMID:12588794
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920650_74920651del , CM000679.2:g.74920650_74920651del | GRCh38 |
| NC_000017.10:g.72916745_72916746del , CM000679.1:g.72916745_72916746del | GRCh37 |
| NC_000017.9:g.70428340_70428341del | NCBI36 |
| NG_007882.1:g.7607_7608del | |
| NG_033062.1:g.1376_1377del | |
| NG_007882.2:g.7614_7615del | |
| NG_033062.2:g.1376_1377del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.186_187del MANE Select | ENSP00000480279.1:p.Ile63LeufsTer? | |
| ENST00000579243.1:c.165-32_165-31del | ENSP00000462568.1:n.165-32_165-31del | |
| ENST00000614341.4:c.186_187del | ENSP00000480279.1:p.Ile63LeufsTer? | |
| NM_001282489.2:c.-92-32_-92-31del | NP_001269418.1:n.-92-32_-92-31del | |
| NM_173477.4:c.186_187del | NP_775748.2:p.Ile63LeufsTer? | |
| XM_011524296.1:c.-124_-123del | XP_011522598.1:n.-124_-123del | |
| XM_011524296.2:c.-124_-123del | XP_011522598.1:n.-124_-123del | |
| NM_173477.5:c.186_187del MANE Select | NP_775748.2:p.Ile63LeufsTer? | |
| NM_001282489.3:c.-92-32_-92-31del | NP_001269418.1:n.-92-32_-92-31del |