Linked Data
ClinVar Variation Id:
2788070
ClinVar RCV Id:
RCV003641217
gnomAD v4:
8-73981136-CTCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.73981138_73981141del , CM000670.2:g.73981138_73981141del | GRCh38 |
| NC_000008.10:g.74893373_74893376del , CM000670.1:g.74893373_74893376del | GRCh37 |
| NC_000008.9:g.75055927_75055930del | NCBI36 |
| NG_016618.1:g.9997_10000del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312184.6:c.317-17_317-14del MANE Select | ENSP00000312599.5:n.317-17_317-14del | |
| ENST00000312184.5:c.317-17_317-14del | ENSP00000312599.5:n.317-17_317-14del | |
| ENST00000416961.6:c.*74-17_*74-14del | ENSP00000407695.2:n.*74-17_*74-14del | |
| ENST00000517439.1:c.*7-17_*7-14del | ENSP00000429467.1:n.*7-17_*7-14del | |
| ENST00000519551.1:n.208-17_208-14del | ||
| NM_001040613.2:c.*7-17_*7-14del | NP_001035703.1:n.*7-17_*7-14del | |
| NM_017866.5:c.317-17_317-14del | NP_060336.3:n.317-17_317-14del | |
| NR_033334.1:n.550-17_550-14del | ||
| NM_017866.6:c.317-17_317-14del MANE Select | NP_060336.3:n.317-17_317-14del | |
| NM_001040613.3:c.*7-17_*7-14del | NP_001035703.1:n.*7-17_*7-14del | |
| NR_033334.2:n.497-17_497-14del |