Linked Data
ClinVar Variation Id:
1438062
ClinVar RCV Id:
RCV001948884
dbSNP Id:
rs1302506624
gnomAD v2:
17-45331277-TG-T
gnomAD v4:
17-47253911-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47253916del , CM000679.2:g.47253916del | GRCh38 |
| NC_000017.10:g.45331282del , CM000679.1:g.45331282del | GRCh37 |
| NC_000017.9:g.42686281del | NCBI36 |
| NG_008332.2:g.5075del , LRG_481:g.5075del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.55del | ENSP00000513002.1:p.Ala19ArgfsTer7 | |
| ENST00000559488.7:c.55del MANE Select | ENSP00000452786.2:p.Ala19ArgfsTer7 | |
| ENST00000559488.5:c.55del | ENSP00000452786.1:p.Ala19ArgfsTer7 | |
| ENST00000560629.1:c.20del | ||
| ENST00000571680.1:c.55del | ENSP00000461626.1:p.Ala19ArgfsTer7 | |
| NM_000212.2:c.55del , LRG_481t1:c.55del | NP_000203.2:p.Ala19ArgfsTer7 | |
| NM_000212.3:c.55del MANE Select | NP_000203.2:p.Ala19ArgfsTer7 |