Linked Data
ClinVar Variation Id:
573
ClinVar RCV Id:
RCV000000603
dbSNP Id:
rs797044429
gnomAD v4:
3-186741887-TA-T
PubMed:
PMID:12576314
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186741889del , CM000665.2:g.186741889del | GRCh38 |
| NC_000003.11:g.186459678del , CM000665.1:g.186459678del | GRCh37 |
| NC_000003.10:g.187942372del | NCBI36 |
| NG_016009.1:g.29581del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287611.8:c.1203+290del | ENSP00000287611.2:n.1203+290del | |
| ENST00000644859.2:c.1493del MANE Select | ENSP00000493985.1:p.Lys498SerfsTer? | |
| ENST00000265023.8:c.1493del | ENSP00000265023.4:p.Lys498SerfsTer? | |
| ENST00000287611.6:c.1203+290del | ENSP00000287611.2:n.1203+290del | |
| ENST00000447445.1:c.1095+290del | ENSP00000396025.1:n.1095+290del | |
| NM_000893.3:c.1203+290del | NP_000884.1:n.1203+290del | |
| NM_001102416.2:c.1493del | NP_001095886.1:p.Lys498SerfsTer? | |
| NM_001166451.1:c.1095+290del | NP_001159923.1:n.1095+290del | |
| NM_000893.4:c.1203+290del | NP_000884.1:n.1203+290del | |
| NM_001102416.3:c.1493del MANE Select | NP_001095886.1:p.Lys498SerfsTer? | |
| NM_001166451.2:c.1095+290del | NP_001159923.1:n.1095+290del |