Linked Data
dbSNP Id:
rs2138026147
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303757_48303761del , CM000675.2:g.48303757_48303761del | GRCh38 |
| NC_000013.10:g.48877893_48877897del , CM000675.1:g.48877893_48877897del | GRCh37 |
| NC_000013.9:g.47775894_47775898del | NCBI36 |
| NG_009009.1:g.5011_5015del , LRG_517:g.5011_5015del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.-156_-152del MANE Select | ENSP00000267163.4:n.-156_-152del | |
| ENST00000646097.1:c.-156_-152del | ENSP00000496556.1:n.-156_-152del | |
| ENST00000650461.1:c.-156_-152del | ENSP00000497193.1:n.-156_-152del | |
| ENST00000525036.1:n.7_11del | ||
| NM_000321.2:c.-156_-152del , LRG_517t1:c.-156_-152del | NP_000312.2:n.-156_-152del | |
| NM_000321.3:c.-156_-152del MANE Select | NP_000312.2:n.-156_-152del |