Linked Data
dbSNP Id:
rs1554848920
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775488_94775489delinsA , CM000672.2:g.94775488_94775489delinsA | GRCh38 |
| NC_000010.10:g.96535245_96535246delinsA , CM000672.1:g.96535245_96535246delinsA | GRCh37 |
| NC_000010.9:g.96525235_96525236delinsA | NCBI36 |
| NG_008384.2:g.17783_17784delinsA | |
| NG_008384.3:g.17808_17809delinsA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.430_431delinsA MANE Select | ENSP00000360372.3:p.Arg144MetfsTer13 | |
| ENST00000645461.1:n.1483_1484delinsA | ||
| ENST00000371321.7:c.430_431delinsA | ENSP00000360372.3:p.Arg144MetfsTer13 | |
| ENST00000464755.1:c.1193_1194delinsA | ENSP00000483243.1:n.1193_1194delinsA | |
| ENST00000480405.2:c.430_431delinsA | ENSP00000483847.1:p.Arg144MetfsTer13 | |
| NM_000769.2:c.430_431delinsA | NP_000760.1:p.Arg144MetfsTer13 | |
| NM_000769.4:c.430_431delinsA MANE Select | NP_000760.1:p.Arg144MetfsTer13 |