Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758326_64758329del , CM000673.2:g.64758326_64758329del | GRCh38 |
| NC_000011.9:g.64525798_64525801del , CM000673.1:g.64525798_64525801del | GRCh37 |
| NC_000011.8:g.64282374_64282377del | NCBI36 |
| NG_013018.1:g.7387_7390del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.445_448del MANE Select | ENSP00000164139.3:p.Ala149HisfsTer? | |
| ENST00000164139.3:c.445_448del | ENSP00000164139.3:p.Ala149HisfsTer? | |
| ENST00000377432.7:c.244-63_244-60del | ENSP00000366650.3:n.244-63_244-60del | |
| NM_001164716.1:c.244-63_244-60del | NP_001158188.1:n.244-63_244-60del | |
| NM_005609.2:c.445_448del | NP_005600.1:p.Ala149HisfsTer? | |
| NM_005609.3:c.445_448del | NP_005600.1:p.Ala149HisfsTer? | |
| NM_005609.4:c.445_448del MANE Select | NP_005600.1:p.Ala149HisfsTer? |