Linked Data
gnomAD v4:
10-87727409-GCTGAATT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87727412_87727418del , CM000672.2:g.87727412_87727418del | GRCh38 |
| NC_000010.10:g.89487169_89487175del , CM000672.1:g.89487169_89487175del | GRCh37 |
| NC_000010.9:g.89477149_89477155del | NCBI36 |
| NG_012150.1:g.72694_72700del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1009_1015del MANE Select | ENSP00000406157.1:p.Glu337MetfsTer26 | |
| ENST00000361175.8:c.994_1000del | ENSP00000354436.4:p.Glu332MetfsTer26 | |
| ENST00000456849.1:c.1009_1015del | ENSP00000406157.1:p.Glu337MetfsTer26 | |
| NM_001015880.1:c.1009_1015del | NP_001015880.1:p.Glu337MetfsTer26 | |
| NM_004670.3:c.994_1000del | NP_004661.2:p.Glu332MetfsTer26 | |
| NM_001015880.2:c.1009_1015del MANE Select | NP_001015880.1:p.Glu337MetfsTer26 | |
| NM_004670.4:c.994_1000del | NP_004661.2:p.Glu332MetfsTer26 |