Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47836335_47836337delinsCAT , CM000681.2:g.47836335_47836337delinsCAT | GRCh38 |
| NC_000019.9:g.48339592_48339594delinsCAT , CM000681.1:g.48339592_48339594delinsCAT | GRCh37 |
| NC_000019.8:g.53031404_53031406delinsCAT | NCBI36 |
| NG_008605.1:g.19494_19496delinsCAT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000554.6:c.193_195delinsCAT MANE Select | NP_000545.1:p.Asp65His |
| ENST00000221996.12:c.193_195delinsCAT MANE Select | ENSP00000221996.5:p.Asp65His |
| NM_000554.4:c.193_195delinsCAT | NP_000545.1:p.Asp65His |
| NM_000554.5:c.193_195delinsCAT | NP_000545.1:p.Asp65His |
| ENST00000221996.11:c.193_195delinsCAT | ENSP00000221996.5:p.Asp65His |
| ENST00000539067.5:c.193_195delinsCAT | ENSP00000445565.1:p.Asp65His |
| ENST00000613299.1:c.100+1792_100+1794delinsCAT | ENSP00000478106.1:n.100+1792_100+1794delinsCAT |