Linked Data
dbSNP Id:
rs1338536398
gnomAD v3:
1-152310408-GGGTGTCCACGAAT-G
gnomAD v4:
1-152310408-GGGTGTCCACGAAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310416_152310428del , CM000663.2:g.152310416_152310428del | GRCh38 |
| NC_000001.10:g.152282892_152282904del , CM000663.1:g.152282892_152282904del | GRCh37 |
| NC_000001.9:g.150549516_150549528del | NCBI36 |
| NG_016190.1:g.19783_19795del , LRG_1028:g.19783_19795del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.4465_4477del MANE Select | ENSP00000357789.1:p.Ile1489ArgfsTer17 | |
| ENST00000368799.1:c.4465_4477del | ENSP00000357789.1:p.Ile1489ArgfsTer17 | |
| NM_002016.1:c.4465_4477del , LRG_1028t1:c.4465_4477del | NP_002007.1:p.Ile1489ArgfsTer17 | |
| XM_011509329.1:c.4465_4477del | XP_011507631.1:p.Ile1489ArgfsTer17 | |
| NM_002016.2:c.4465_4477del MANE Select | NP_002007.1:p.Ile1489ArgfsTer17 |