Linked Data
gnomAD v4:
10-87713272-CTGGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87713273_87713276del , CM000672.2:g.87713273_87713276del | GRCh38 |
| NC_000010.10:g.89473030_89473033del , CM000672.1:g.89473030_89473033del | GRCh37 |
| NC_000010.9:g.89463010_89463013del | NCBI36 |
| NG_012150.1:g.58555_58558del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.344_347del MANE Select | ENSP00000406157.1:p.Leu115ProfsTer? | |
| ENST00000361175.8:c.344_347del | ENSP00000354436.4:p.Leu115ProfsTer? | |
| ENST00000456849.1:c.344_347del | ENSP00000406157.1:p.Leu115ProfsTer? | |
| ENST00000482258.1:n.387_390del | ||
| NM_001015880.1:c.344_347del | NP_001015880.1:p.Leu115ProfsTer? | |
| NM_004670.3:c.344_347del | NP_004661.2:p.Leu115ProfsTer? | |
| NM_001015880.2:c.344_347del MANE Select | NP_001015880.1:p.Leu115ProfsTer? | |
| NM_004670.4:c.344_347del | NP_004661.2:p.Leu115ProfsTer? |