Linked Data
ClinVar Variation Id:
21699
ClinVar RCV Id:
RCV000020897
dbSNP Id:
rs80338936
gnomAD v4:
5-149008987-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149008989del , CM000667.2:g.149008989del | GRCh38 |
| NC_000005.9:g.148388552del , CM000667.1:g.148388552del | GRCh37 |
| NC_000005.8:g.148368745del | NCBI36 |
| NG_007947.2:g.59187del , LRG_269:g.59187del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502274.2:c.3237del | ||
| ENST00000515425.6:c.3341del MANE Select | ENSP00000423660.1:p.Pro1114LeufsTer2 | |
| ENST00000675793.1:c.*2625del | ENSP00000502039.1:n.*2625del | |
| ENST00000323829.9:c.*2729del | ENSP00000313025.5:n.*2729del | |
| ENST00000504517.5:c.2871del | ENSP00000421779.1:n.2871del | |
| ENST00000504690.5:c.3341del | ENSP00000425627.1:p.Pro1114LeufsTer2 | |
| ENST00000510779.1:c.2391del | ||
| ENST00000512049.5:c.3320del | ENSP00000421860.1:p.Pro1107LeufsTer2 | |
| ENST00000515229.5:n.3del | ||
| ENST00000515425.5:c.3341del | ENSP00000423660.1:p.Pro1114LeufsTer2 | |
| NM_024577.3:c.3341del , LRG_269t1:c.3341del | NP_078853.2:p.Pro1114LeufsTer2 | |
| NM_024577.4:c.3341del MANE Select | NP_078853.2:p.Pro1114LeufsTer2 |