Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884676_13884677delinsTG , CM000680.2:g.13884676_13884677delinsTG | GRCh38 |
| NC_000018.9:g.13884675_13884676delinsTG , CM000680.1:g.13884675_13884676delinsTG | GRCh37 |
| NC_000018.8:g.13874675_13874676delinsTG | NCBI36 |
| NG_011819.1:g.35860_35861delinsCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327606.4:c.842_843delinsCA MANE Select | ENSP00000333821.2:p.Pro281= | |
| ENST00000327606.3:c.842_843delinsCA | ENSP00000333821.2:p.Pro281= | |
| NM_000529.2:c.842_843delinsCA MANE Select | NP_000520.1:p.Pro281= | |
| NM_001291911.1:c.842_843delinsCA | NP_001278840.1:p.Pro281= | |
| XM_017025781.1:c.842_843delinsCA | XP_016881270.1:p.Pro281= |