Linked Data
ClinVar Variation Id:
2678890
ClinVar RCV Id:
RCV003472866
dbSNP Id:
rs745808884
ExAC:
5:149357526 TA / T
gnomAD v2:
5-149357526-TA-T
gnomAD v4:
5-149977963-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977966del , CM000667.2:g.149977966del | GRCh38 |
| NC_000005.9:g.149357529del , CM000667.1:g.149357529del | GRCh37 |
| NC_000005.8:g.149337722del | NCBI36 |
| NG_007147.2:g.19084del , LRG_684:g.19084del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.546del | ||
| ENST00000286298.5:c.314del MANE Select | ENSP00000286298.4:p.Lys105ArgfsTer5 | |
| ENST00000286298.4:c.314del | ENSP00000286298.4:p.Lys105ArgfsTer5 | |
| NM_000112.3:c.314del , LRG_684t1:c.314del | NP_000103.2:p.Lys105ArgfsTer5 | |
| XM_017009191.2:c.314del | XP_016864680.1:p.Lys105ArgfsTer5 | |
| NM_000112.4:c.314del MANE Select | NP_000103.2:p.Lys105ArgfsTer5 |