Linked Data
dbSNP Id:
rs775794121
ExAC:
17:48051263 CA / C
gnomAD v2:
17-48051263-CA-C
gnomAD v4:
17-49973899-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49973900del , CM000679.2:g.49973900del | GRCh38 |
| NC_000017.10:g.48051264del , CM000679.1:g.48051264del | GRCh37 |
| NC_000017.9:g.45406263del | NCBI36 |
| NG_030592.1:g.9703del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706528.1:n.1561del | ||
| ENST00000240306.5:c.680del MANE Select | ENSP00000240306.3:p.Gln227ArgfsTer13 | |
| ENST00000240306.4:c.680del | ENSP00000240306.3:p.Gln227ArgfsTer13 | |
| ENST00000411890.3:c.464del | ENSP00000410622.2:p.Gln155ArgfsTer13 | |
| ENST00000611342.1:c.*550del | ENSP00000480366.1:n.*550del | |
| NM_001934.3:c.464del | NP_001925.2:p.Gln155ArgfsTer13 | |
| NM_138281.2:c.680del | NP_612138.1:p.Gln227ArgfsTer13 | |
| XM_011524459.1:c.464del | XP_011522761.1:p.Gln155ArgfsTer13 | |
| XM_017024291.1:c.464del | XP_016879780.1:p.Gln155ArgfsTer13 | |
| NM_138281.3:c.680del MANE Select | NP_612138.1:p.Gln227ArgfsTer13 | |
| NM_001934.4:c.464del | NP_001925.2:p.Gln155ArgfsTer13 |