Linked Data
dbSNP Id:
rs1248344524
gnomAD v2:
5-7617228-TCCCA-T
gnomAD v3:
5-7617115-TCCCA-T
gnomAD v4:
5-7617115-TCCCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7617116_7617119del , CM000667.2:g.7617116_7617119del | GRCh38 |
| NC_000005.9:g.7617229_7617232del , CM000667.1:g.7617229_7617232del | GRCh37 |
| NC_000005.8:g.7670229_7670232del | NCBI36 |
| NG_046913.1:g.225887_225890del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338316.9:c.571-9051_571-9048del MANE Select | ENSP00000342952.4:n.571-9051_571-9048del | |
| ENST00000338316.8:c.571-9051_571-9048del | ENSP00000342952.4:n.571-9051_571-9048del | |
| ENST00000498598.1:n.270-9051_270-9048del | ||
| ENST00000515681.1:c.-64+5941_-64+5944del | ENSP00000425069.1:n.-64+5941_-64+5944del | |
| ENST00000537121.5:c.566-9051_566-9048del | ENSP00000444803.2:n.566-9051_566-9048del | |
| NM_020546.2:c.571-9051_571-9048del | NP_065433.2:n.571-9051_571-9048del | |
| XM_011513942.1:c.571-9051_571-9048del | XP_011512244.1:n.571-9051_571-9048del | |
| XR_427657.2:n.585-9051_585-9048del | ||
| XM_011513942.2:c.571-9051_571-9048del | XP_011512244.1:n.571-9051_571-9048del | |
| XR_001741973.1:n.585-9051_585-9048del | ||
| XR_001741974.2:n.585-9051_585-9048del | ||
| NM_020546.3:c.571-9051_571-9048del MANE Select | NP_065433.2:n.571-9051_571-9048del |