Linked Data
gnomAD v4:
1-171652391-A-ATC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652391_171652392insTC , CM000663.2:g.171652391_171652392insTC | GRCh38 |
| NC_000001.10:g.171621531_171621532insTC , CM000663.1:g.171621531_171621532insTC | GRCh37 |
| NC_000001.9:g.169888154_169888155insTC | NCBI36 |
| NG_008859.1:g.5242_5243insGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000037502.11:c.220_221insGA MANE Select | ENSP00000037502.5:p.Leu74Ter | |
| ENST00000638471.1:c.130+90_130+91insGA | ENSP00000491206.1:n.130+90_130+91insGA | |
| ENST00000037502.10:c.220_221insGA | ENSP00000037502.5:p.Leu74Ter | |
| ENST00000614688.1:c.220_221insGA | ENSP00000478680.1:p.Leu74Ter | |
| NM_000261.1:c.220_221insGA | NP_000252.1:p.Leu74Ter | |
| NM_000261.2:c.220_221insGA MANE Select | NP_000252.1:p.Leu74Ter |