Linked Data
gnomAD v4:
1-115033339-CTTTAAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033344_115033349del , CM000663.2:g.115033344_115033349del | GRCh38 |
| NC_000001.10:g.115575965_115575970del , CM000663.1:g.115575965_115575970del | GRCh37 |
| NC_000001.9:g.115377488_115377493del | NCBI36 |
| NG_015891.1:g.8551_8556del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.-1-18_-1-13del MANE Select | ENSP00000256592.1:n.-1-18_-1-13del | |
| ENST00000256592.2:c.-1-18_-1-13del | ENSP00000256592.1:n.-1-18_-1-13del | |
| NM_000549.4:c.-1-18_-1-13del | NP_000540.2:n.-1-18_-1-13del | |
| XM_011542065.1:c.-19_-14del | XP_011540367.1:n.-19_-14del | |
| XM_011542065.2:c.-19_-14del | XP_011540367.1:n.-19_-14del | |
| NM_000549.5:c.-1-18_-1-13del MANE Select | NP_000540.2:n.-1-18_-1-13del |