ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101573734del , CM000670.2:g.101573734del | GRCh38 |
| NC_000008.10:g.102585962del , CM000670.1:g.102585962del | GRCh37 |
| NC_000008.9:g.102655138del | NCBI36 |
| NG_011971.1:g.86295del | |
| NG_011971.2:g.86295del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646743.1:c.801del MANE Select | ENSP00000495564.1:p.Met267IlefsTer12 | |
| ENST00000251808.7:c.801del | ENSP00000251808.3:p.Met267IlefsTer12 | |
| ENST00000395927.1:c.753del | ENSP00000379260.1:p.Met251IlefsTer12 | |
| NM_024915.3:c.801del | NP_079191.2:p.Met267IlefsTer12 | |
| XM_011517305.1:c.753del | XP_011515607.1:p.Met251IlefsTer12 | |
| XM_011517306.1:c.753del | XP_011515608.1:p.Met251IlefsTer12 | |
| XM_011517307.1:c.801del | XP_011515609.1:p.Met267IlefsTer12 | |
| NM_001330593.1:c.753del | NP_001317522.1:p.Met251IlefsTer12 | |
| XM_011517306.3:c.753del | XP_011515608.1:p.Met251IlefsTer12 | |
| XM_011517307.3:c.801del | XP_011515609.1:p.Met267IlefsTer12 | |
| NM_001330593.2:c.753del | NP_001317522.1:p.Met251IlefsTer12 | |
| NM_024915.4:c.801del MANE Select | NP_079191.2:p.Met267IlefsTer12 |