Linked Data
dbSNP Id:
rs1316565279
gnomAD v2:
22-44324720-GCTT-G
gnomAD v3:
22-43928840-GCTT-G
gnomAD v4:
22-43928840-GCTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928842_43928844del , CM000684.2:g.43928842_43928844del | GRCh38 |
| NC_000022.10:g.44324722_44324724del , CM000684.1:g.44324722_44324724del | GRCh37 |
| NC_000022.9:g.42656055_42656057del | NCBI36 |
| NG_008631.1:g.10104_10106del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.439_441del MANE Select | ENSP00000216180.3:p.Phe147del | |
| ENST00000216180.7:c.439_441del | ENSP00000216180.3:p.Phe147del | |
| ENST00000406117.6:c.*71_*73del | ENSP00000384668.2:n.*71_*73del | |
| ENST00000423180.2:c.427_429del | ENSP00000397987.2:p.Phe143del | |
| ENST00000478713.1:n.473_475del | ||
| NM_025225.2:c.439_441del | NP_079501.2:p.Phe147del | |
| NM_025225.3:c.439_441del MANE Select | NP_079501.2:p.Phe147del |