ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980515del , CM000667.2:g.149980515del | GRCh38 |
| NC_000005.9:g.149360078del , CM000667.1:g.149360078del | GRCh37 |
| NC_000005.8:g.149340271del | NCBI36 |
| NG_007147.2:g.21633del , LRG_684:g.21633del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.922del MANE Select | ENSP00000286298.4:p.Ser308AlafsTer? | |
| ENST00000286298.4:c.922del | ENSP00000286298.4:p.Ser308AlafsTer? | |
| ENST00000503336.1:c.372+2164del | ENSP00000426053.1:n.372+2164del | |
| NM_000112.3:c.922del , LRG_684t1:c.922del | NP_000103.2:p.Ser308AlafsTer? | |
| XM_017009191.2:c.922del | XP_016864680.1:p.Ser308AlafsTer? | |
| NM_000112.4:c.922del MANE Select | NP_000103.2:p.Ser308AlafsTer? |