Linked Data
ClinVar Variation Id:
419056
ClinVar RCV Id:
RCV000478485
dbSNP Id:
rs1064793612
gnomAD v3:
12-120737012-TC-T
gnomAD v4:
12-120737012-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737013del , CM000674.2:g.120737013del | GRCh38 |
| NC_000012.11:g.121174816del , CM000674.1:g.121174816del | GRCh37 |
| NC_000012.10:g.119659199del | NCBI36 |
| NG_007991.1:g.16246del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.238del MANE Select | ENSP00000242592.4:p.Leu80TrpfsTer? | |
| ENST00000242592.8:c.238del | ENSP00000242592.4:p.Leu80TrpfsTer? | |
| ENST00000411593.2:c.238del | ENSP00000401045.2:p.Leu80TrpfsTer? | |
| ENST00000539690.1:n.350del | ||
| NM_000017.3:c.238del | NP_000008.1:p.Leu80TrpfsTer? | |
| NM_001302554.1:c.238del | NP_001289483.1:p.Leu80TrpfsTer? | |
| NM_000017.4:c.238del MANE Select | NP_000008.1:p.Leu80TrpfsTer? | |
| NM_001302554.2:c.238del | NP_001289483.1:p.Leu80TrpfsTer? |