Linked Data
ClinVar Variation Id:
39099
ClinVar RCV Id:
RCV000032364
dbSNP Id:
rs199422290
PubMed:
PMID:20301779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1294878del , CM000667.2:g.1294878del | GRCh38 |
| NC_000005.9:g.1294993del , CM000667.1:g.1294993del | GRCh37 |
| NC_000005.8:g.1347993del | NCBI36 |
| NG_009265.1:g.5170del , LRG_343:g.5170del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310581.10:c.112del MANE Select | ENSP00000309572.5:p.Leu38TrpfsTer? | |
| ENST00000656021.1:c.112del | ENSP00000499759.1:p.Leu38TrpfsTer? | |
| ENST00000310581.9:c.112del | ENSP00000309572.5:p.Leu38TrpfsTer? | |
| ENST00000334602.10:c.112del | ENSP00000334346.6:p.Leu38TrpfsTer? | |
| ENST00000460137.6:c.112del | ENSP00000425003.1:p.Leu38TrpfsTer? | |
| ENST00000508104.2:c.112del | ENSP00000426042.2:p.Leu38TrpfsTer? | |
| ENST00000522877.1:n.192del | ||
| NM_001193376.1:c.112del | NP_001180305.1:p.Leu38TrpfsTer? | |
| NM_198253.2:c.112del , LRG_343t1:c.112del | NP_937983.2:p.Leu38TrpfsTer? | |
| NR_149162.1:n.170del | ||
| NR_149163.1:n.170del | ||
| NM_001193376.2:c.112del | NP_001180305.1:p.Leu38TrpfsTer? | |
| NM_198253.3:c.112del MANE Select | NP_937983.2:p.Leu38TrpfsTer? | |
| NR_149162.2:n.191del | ||
| NR_149163.2:n.191del | ||
| NM_001193376.3:c.112del | NP_001180305.1:p.Leu38TrpfsTer? | |
| NR_149162.3:n.191del | ||
| NR_149163.3:n.191del |