Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52186440_52186441delinsTG , CM000668.2:g.52186440_52186441delinsTG | GRCh38 |
| NC_000006.11:g.52051238_52051239delinsTG , CM000668.1:g.52051238_52051239delinsTG | GRCh37 |
| NC_000006.10:g.52159197_52159198delinsTG | NCBI36 |
| NG_033021.1:g.5054_5055delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648244.1:c.9_10delinsTG MANE Select | ENSP00000497968.1:p.Pro3= | |
| ENST00000340057.1:c.9_10delinsTG | ENSP00000344192.1:p.Pro3= | |
| NM_002190.2:c.9_10delinsTG | NP_002181.1:p.Pro3= | |
| NM_002190.3:c.9_10delinsTG MANE Select | NP_002181.1:p.Pro3= |