Linked Data
ClinVar Variation Id:
2674906
ClinVar RCV Id:
RCV003466231
dbSNP Id:
rs757940841
gnomAD v2:
1-98015251-TTCTGGGAGACCCCA-T
gnomAD v3:
1-97549695-TTCTGGGAGACCCCA-T
gnomAD v4:
1-97549695-TTCTGGGAGACCCCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97549700_97549713del , CM000663.2:g.97549700_97549713del | GRCh38 |
| NC_000001.10:g.98015256_98015269del , CM000663.1:g.98015256_98015269del | GRCh37 |
| NC_000001.9:g.97787844_97787857del | NCBI36 |
| NG_008807.2:g.376351_376364del , LRG_722:g.376351_376364del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.1375_1388del MANE Select | ENSP00000359211.3:p.Trp459SerfsTer9 | |
| ENST00000370192.7:c.1375_1388del | ENSP00000359211.3:p.Trp459SerfsTer9 | |
| NM_000110.3:c.1375_1388del , LRG_722t1:c.1375_1388del | NP_000101.2:p.Trp459SerfsTer9 | |
| XM_005270562.3:c.1375_1388del | XP_005270619.2:p.Trp459SerfsTer9 | |
| XM_006710397.2:c.1375_1388del | XP_006710460.1:p.Trp459SerfsTer9 | |
| XM_006710397.3:c.1375_1388del | XP_006710460.1:p.Trp459SerfsTer9 | |
| XM_017000507.1:c.1264_1277del | XP_016855996.1:p.Trp422SerfsTer9 | |
| XM_017000508.2:c.880_893del | XP_016855997.1:p.Trp294SerfsTer9 | |
| XM_017000509.2:c.880_893del | XP_016855998.1:p.Trp294SerfsTer9 | |
| XM_017000510.1:c.880_893del | XP_016855999.1:p.Trp294SerfsTer9 | |
| NM_000110.4:c.1375_1388del MANE Select | NP_000101.2:p.Trp459SerfsTer9 |