Linked Data
ClinVar Variation Id:
1072595
ClinVar RCV Id:
RCV001385355
dbSNP Id:
rs2135597189
gnomAD v3:
10-102504174-GGCGCCCCCGGCCCCACC-G
gnomAD v4:
10-102504174-GGCGCCCCCGGCCCCACC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102504189_102504205del , CM000672.2:g.102504189_102504205del | GRCh38 |
| NC_000010.10:g.104263946_104263962del , CM000672.1:g.104263946_104263962del | GRCh37 |
| NC_000010.9:g.104253936_104253952del | NCBI36 |
| NG_011901.1:g.3565_3581del | |
| NG_021338.1:g.5228_5244del , LRG_521:g.5228_5244del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369902.8:c.37_53del MANE Select | ENSP00000358918.4:p.Thr13TrpfsTer29 | |
| ENST00000369899.6:c.37_53del | ENSP00000358915.2:p.Thr13TrpfsTer29 | |
| ENST00000369902.7:c.37_53del | ENSP00000358918.3:p.Thr13TrpfsTer29 | |
| ENST00000423559.2:c.37_53del | ENSP00000411597.2:p.Thr13TrpfsTer29 | |
| NM_001178133.1:c.37_53del | NP_001171604.1:p.Thr13TrpfsTer29 | |
| NM_016169.3:c.37_53del , LRG_521t1:c.37_53del | NP_057253.2:p.Thr13TrpfsTer29 | |
| XM_011539858.1:c.37_53del | XP_011538160.1:p.Thr13TrpfsTer29 | |
| XM_011539859.1:c.37_53del | XP_011538161.1:p.Thr13TrpfsTer29 | |
| XM_011539860.1:c.37_53del | XP_011538162.1:p.Thr13TrpfsTer29 | |
| XM_011539861.1:c.37_53del | XP_011538163.1:p.Thr13TrpfsTer29 | |
| XM_011539863.1:c.8+1203_8+1219del | XP_011538165.1:n.8+1203_8+1219del | |
| XM_011539864.1:c.37_53del | XP_011538166.1:p.Thr13TrpfsTer29 | |
| XM_011539858.3:c.37_53del | XP_011538160.1:p.Thr13TrpfsTer29 | |
| XM_011539860.3:c.37_53del | XP_011538162.1:p.Thr13TrpfsTer29 | |
| XM_011539861.3:c.37_53del | XP_011538163.1:p.Thr13TrpfsTer29 | |
| XM_011539863.3:c.8+1203_8+1219del | XP_011538165.1:n.8+1203_8+1219del | |
| XM_011539864.3:c.37_53del | XP_011538166.1:p.Thr13TrpfsTer29 | |
| NM_001178133.2:c.37_53del | NP_001171604.1:p.Thr13TrpfsTer29 | |
| NM_016169.4:c.37_53del MANE Select | NP_057253.2:p.Thr13TrpfsTer29 |