Linked Data
gnomAD v4:
X-50916146-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50916148_50916149del , CM000685.2:g.50916148_50916149del | GRCh38 |
| NC_000023.10:g.50659148_50659149del , CM000685.1:g.50659148_50659149del | GRCh37 |
| NC_000023.9:g.50675888_50675889del | NCBI36 |
| NG_012894.1:g.10365_10366del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.720_721del MANE Select | ENSP00000252677.3:p.His240GlnfsTer7 | |
| ENST00000252677.3:c.720_721del | ENSP00000252677.3:p.His240GlnfsTer7 | |
| NM_005448.2:c.720_721del MANE Select | NP_005439.2:p.His240GlnfsTer7 |