Linked Data
gnomAD v4:
9-101421446-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421448_101421449del , CM000671.2:g.101421448_101421449del | GRCh38 |
| NC_000009.11:g.104183730_104183731del , CM000671.1:g.104183730_104183731del | GRCh37 |
| NC_000009.10:g.103223551_103223552del | NCBI36 |
| NG_012387.1:g.19333_19334del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.*361_*362del MANE Select | ENSP00000497767.1:n.*361_*362del | |
| ENST00000648064.1:c.*361_*362del | ENSP00000497990.1:n.*361_*362del | |
| ENST00000374855.8:c.*361_*362del | ENSP00000363988.4:n.*361_*362del | |
| NM_000035.3:c.*361_*362del | NP_000026.2:n.*361_*362del | |
| NM_000035.4:c.*361_*362del MANE Select | NP_000026.2:n.*361_*362del |