Linked Data
ClinVar Variation Id:
374325
ClinVar RCV Id:
RCV000415028
dbSNP Id:
rs1057518698
PubMed:
PMID:9354785
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41967775del , CM000669.2:g.41967775del | GRCh38 |
| NC_000007.13:g.42007373del , CM000669.1:g.42007373del | GRCh37 |
| NC_000007.12:g.41973898del | NCBI36 |
| NG_008434.1:g.274246del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395925.8:c.2252del MANE Select | ENSP00000379258.3:p.Asp751AlafsTer28 | |
| ENST00000677288.1:c.2078del | ENSP00000503986.1:p.Asp693AlafsTer28 | |
| ENST00000677605.1:c.2252del | ENSP00000503743.1:p.Asp751AlafsTer28 | |
| ENST00000678429.1:c.2252del | ENSP00000502957.1:p.Asp751AlafsTer28 | |
| ENST00000395925.7:c.2252del | ENSP00000379258.3:p.Asp751AlafsTer28 | |
| ENST00000479210.1:n.2229del | ||
| NM_000168.5:c.2252del | NP_000159.3:p.Asp751AlafsTer28 | |
| XM_005249703.1:c.2252del | XP_005249760.1:p.Asp751AlafsTer28 | |
| XM_005249704.2:c.2252del | XP_005249761.1:p.Asp751AlafsTer28 | |
| XM_011515272.1:c.2252del | XP_011513574.1:p.Asp751AlafsTer28 | |
| XM_011515273.1:c.2252del | XP_011513575.1:p.Asp751AlafsTer28 | |
| XM_011515274.1:c.2075del | XP_011513576.1:p.Asp692AlafsTer28 | |
| XM_011515274.2:c.2075del | XP_011513576.1:p.Asp692AlafsTer28 | |
| XM_017011997.1:c.2249del | XP_016867486.1:p.Asp750AlafsTer28 | |
| NM_000168.6:c.2252del MANE Select | NP_000159.3:p.Asp751AlafsTer28 |