Linked Data
ClinVar Variation Id:
371088
ClinVar RCV Id:
RCV000410066
dbSNP Id:
rs1057516997
gnomAD v4:
1-97699507-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97699509del , CM000663.2:g.97699509del | GRCh38 |
| NC_000001.10:g.98165065del , CM000663.1:g.98165065del | GRCh37 |
| NC_000001.9:g.97937653del | NCBI36 |
| NG_008807.2:g.226552del , LRG_722:g.226552del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370192.8:c.523del MANE Select | ENSP00000359211.3:p.Ser175ArgfsTer26 | |
| ENST00000370192.7:c.523del | ENSP00000359211.3:p.Ser175ArgfsTer26 | |
| ENST00000474241.1:n.287del | ||
| NM_000110.3:c.523del , LRG_722t1:c.523del | NP_000101.2:p.Ser175ArgfsTer26 | |
| XM_005270562.3:c.523del | XP_005270619.2:p.Ser175ArgfsTer26 | |
| XM_006710397.2:c.523del | XP_006710460.1:p.Ser175ArgfsTer26 | |
| XM_006710397.3:c.523del | XP_006710460.1:p.Ser175ArgfsTer26 | |
| XM_017000507.1:c.412del | XP_016855996.1:p.Ser138ArgfsTer26 | |
| XM_017000508.2:c.28del | XP_016855997.1:p.Ser10ArgfsTer26 | |
| XM_017000509.2:c.28del | XP_016855998.1:p.Ser10ArgfsTer26 | |
| XM_017000510.1:c.28del | XP_016855999.1:p.Ser10ArgfsTer26 | |
| XR_001737014.1:n.762del | ||
| NM_000110.4:c.523del MANE Select | NP_000101.2:p.Ser175ArgfsTer26 |