Linked Data
ClinVar Variation Id:
56519
ClinVar RCV Id:
RCV000049932
dbSNP Id:
rs386833957
PubMed:
PMID:11854170
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849600_35849601del , CM000681.2:g.35849600_35849601del | GRCh38 |
| NC_000019.9:g.36340502_36340503del , CM000681.1:g.36340502_36340503del | GRCh37 |
| NC_000019.8:g.41032342_41032343del | NCBI36 |
| NG_013356.2:g.24687_24688del , LRG_693:g.24687_24688del | |
| NG_051206.1:g.2966_2967del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378910.10:c.661_662del MANE Select | ENSP00000368190.4:p.Ser221ProfsTer? | |
| ENST00000353632.6:c.661_662del | ENSP00000343634.5:p.Ser221ProfsTer? | |
| ENST00000378910.9:c.661_662del | ENSP00000368190.4:p.Ser221ProfsTer? | |
| NM_004646.3:c.661_662del , LRG_693t1:c.661_662del | NP_004637.1:p.Ser221ProfsTer? | |
| NM_004646.4:c.661_662del MANE Select | NP_004637.1:p.Ser221ProfsTer? |