Linked Data
ClinVar Variation Id:
56428
ClinVar RCV Id:
RCV000049841
dbSNP Id:
rs386833870
PubMed:
PMID:18614772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848672_35848673del , CM000681.2:g.35848672_35848673del | GRCh38 |
| NC_000019.9:g.36339574_36339575del , CM000681.1:g.36339574_36339575del | GRCh37 |
| NC_000019.8:g.41031414_41031415del | NCBI36 |
| NG_013356.2:g.25616_25617del , LRG_693:g.25616_25617del | |
| NG_051206.1:g.2038_2039del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1135_1136del MANE Select | ENSP00000368190.4:p.Arg379AlafsTer? | |
| ENST00000353632.6:c.1135_1136del | ENSP00000343634.5:p.Arg379AlafsTer? | |
| ENST00000378910.9:c.1135_1136del | ENSP00000368190.4:p.Arg379AlafsTer? | |
| ENST00000592132.1:n.142_143del | ||
| NM_004646.3:c.1135_1136del , LRG_693t1:c.1135_1136del | NP_004637.1:p.Arg379AlafsTer? | |
| NM_004646.4:c.1135_1136del MANE Select | NP_004637.1:p.Arg379AlafsTer? |