Linked Data
ClinVar Variation Id:
285373
ClinVar RCV Id:
RCV000315950
dbSNP Id:
rs886043087
gnomAD v2:
5-138282986-GC-G
gnomAD v4:
5-138947297-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138947300del , CM000667.2:g.138947300del | GRCh38 |
| NC_000005.9:g.138282989del , CM000667.1:g.138282989del | GRCh37 |
| NC_000005.8:g.138310888del | NCBI36 |
| NG_008112.1:g.256079del | |
| NG_008112.2:g.256079del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.1205del MANE Select | ENSP00000378294.2:p.Gly402AlafsTer4 | |
| ENST00000265195.9:c.1205del | ENSP00000265195.5:p.Gly402AlafsTer4 | |
| ENST00000394817.6:c.1205del | ENSP00000378294.2:p.Gly402AlafsTer4 | |
| ENST00000509534.5:c.1226del | ENSP00000426858.1:p.Gly409AlafsTer4 | |
| ENST00000515008.1:n.540del | ||
| NM_001037633.1:c.1205del | NP_001032722.1:p.Gly402AlafsTer4 | |
| NM_022464.4:c.1205del | NP_071909.1:p.Gly402AlafsTer4 | |
| XM_011543570.1:c.1235del | XP_011541872.1:p.Gly412AlafsTer4 | |
| XM_011543570.2:c.1235del | XP_011541872.1:p.Gly412AlafsTer4 | |
| XM_024446164.1:c.1205del | XP_024301932.1:p.Gly402AlafsTer4 | |
| NM_022464.5:c.1205del MANE Select | NP_071909.1:p.Gly402AlafsTer4 | |
| NM_001037633.2:c.1205del | NP_001032722.1:p.Gly402AlafsTer4 |