Linked Data
dbSNP Id:
rs1456146259
gnomAD v2:
19-1399133-GA-G
gnomAD v3:
19-1399134-GA-G
gnomAD v4:
19-1399134-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399136del , CM000681.2:g.1399136del | GRCh38 |
| NC_000019.9:g.1399135del , CM000681.1:g.1399135del | GRCh37 |
| NC_000019.8:g.1350135del | NCBI36 |
| NG_009785.1:g.7419del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.452del MANE Select | ENSP00000252288.1:p.Phe151SerfsTer10 | |
| ENST00000447102.8:c.452del | ENSP00000403536.2:p.Phe151SerfsTer10 | |
| ENST00000591788.3:c.135del | ||
| ENST00000640164.1:n.285del | ||
| ENST00000640762.1:c.383del | ENSP00000492031.1:p.Phe128SerfsTer10 | |
| ENST00000252288.6:c.452del | ENSP00000252288.1:p.Phe151SerfsTer10 | |
| ENST00000447102.7:c.452del | ENSP00000403536.2:p.Phe151SerfsTer10 | |
| ENST00000591788.2:c.137del | ENSP00000466341.2:p.Phe46SerfsTer10 | |
| NM_000156.5:c.452del | NP_000147.1:p.Phe151SerfsTer10 | |
| NM_138924.2:c.452del | NP_620279.1:p.Phe151SerfsTer10 | |
| NM_000156.6:c.452del MANE Select | NP_000147.1:p.Phe151SerfsTer10 | |
| NM_138924.3:c.452del | NP_620279.1:p.Phe151SerfsTer10 |