Linked Data
gnomAD v4:
19-45804406-TAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804409_45804411del , CM000681.2:g.45804409_45804411del | GRCh38 |
| NC_000019.9:g.46307667_46307669del , CM000681.1:g.46307667_46307669del | GRCh37 |
| NC_000019.8:g.50999507_50999509del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1496_1498del MANE Select | ENSP00000221538.2:p.Phe499del | |
| ENST00000221538.7:c.1496_1498del | ENSP00000221538.2:p.Phe499del | |
| ENST00000597055.1:c.1496_1498del | ENSP00000472630.1:p.Phe499del | |
| ENST00000600188.5:c.704_706del | ENSP00000471559.1:p.Phe235del | |
| NM_030785.3:c.1496_1498del | NP_110412.1:p.Phe499del | |
| XM_011527351.1:c.1496_1498del | XP_011525653.1:p.Phe499del | |
| XM_011527351.2:c.1496_1498del | XP_011525653.1:p.Phe499del | |
| NM_030785.4:c.1496_1498del MANE Select | NP_110412.1:p.Phe499del |