UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22221622_22221623insAAT , CM000685.2:g.22221622_22221623insAAT | GRCh38 |
| NC_000023.10:g.22239739_22239740insAAT , CM000685.1:g.22239739_22239740insAAT | GRCh37 |
| NC_000023.9:g.22149660_22149661insAAT | NCBI36 |
| NG_007563.2:g.193819_193820insAAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682888.1:c.332_333insAAT (PHEX) | ENSP00000508003.1:p.Tyr111Ter | |
| ENST00000683162.1:c.332_333insAAT (PHEX) | ENSP00000508059.1:p.Tyr111Ter | |
| ENST00000683289.1:c.332_333insAAT (PHEX) | ENSP00000508195.1:p.Tyr111Ter | |
| ENST00000683917.1:n.562_563insAAT (PHEX) | ||
| ENST00000684356.1:c.332_333insAAT (PHEX) | ENSP00000507619.1:p.Tyr111Ter | |
| ENST00000684745.1:n.1452_1453insAAT (PHEX) | ||
| ENST00000379374.5:c.1778_1779insAAT (PHEX) MANE Select | ENSP00000368682.4:p.Tyr593Ter | |
| ENST00000379374.4:c.1778_1779insAAT (PHEX) | ENSP00000368682.4:p.Tyr593Ter | |
| NM_000444.5:c.1778_1779insAAT (PHEX) | NP_000435.3:p.Tyr593Ter | |
| NM_001282754.1:c.1778_1779insAAT (PHEX) | NP_001269683.1:p.Tyr593Ter | |
| XM_011545533.1:c.1022_1023insAAT (PHEX) | XP_011543835.1:p.Tyr341Ter | |
| XM_011545534.1:c.1022_1023insAAT (PHEX) | XP_011543836.1:p.Tyr341Ter | |
| XM_011545536.1:c.671_672insAAT (PHEX) | XP_011543838.1:p.Tyr224Ter | |
| NR_073010.2:n.1048+5847_1048+5848insATT (PTCHD1-AS) | ||
| XM_011545536.2:c.671_672insAAT (PHEX) | XP_011543838.1:p.Tyr224Ter | |
| XM_017029579.1:c.1022_1023insAAT (PHEX) | XP_016885068.1:p.Tyr341Ter | |
| XM_024452390.1:c.1487_1488insAAT (PHEX) | XP_024308158.1:p.Tyr496Ter | |
| XR_001755695.1:n.2618_2619insAAT (PHEX) | ||
| NM_000444.6:c.1778_1779insAAT (PHEX) MANE Select | NP_000435.3:p.Tyr593Ter | |
| NM_001282754.2:c.1778_1779insAAT (PHEX) | NP_001269683.1:p.Tyr593Ter |