Linked Data
gnomAD v4:
3-81705519-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705520dup , CM000665.2:g.81705520dup | GRCh38 |
| NC_000003.11:g.81754671dup , CM000665.1:g.81754671dup | GRCh37 |
| NC_000003.10:g.81837361dup | NCBI36 |
| NG_011810.1:g.61281dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.237dup MANE Select | ENSP00000410833.2:p.Arg80GlnfsTer4 | |
| ENST00000429644.6:c.237dup | ENSP00000410833.2:p.Arg80GlnfsTer4 | |
| ENST00000489715.1:c.114dup | ENSP00000419638.1:p.Arg39GlnfsTer4 | |
| NM_000158.3:c.237dup | NP_000149.3:p.Arg80GlnfsTer4 | |
| NM_000158.4:c.237dup MANE Select | NP_000149.4:p.Arg80GlnfsTer4 |