Linked Data
dbSNP Id:
rs1969802646
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898487_4898490del , CM000679.2:g.4898487_4898490del | GRCh38 |
| NC_000017.10:g.4801782_4801785del , CM000679.1:g.4801782_4801785del | GRCh37 |
| NC_000017.9:g.4742561_4742564del | NCBI36 |
| NG_008029.2:g.9590_9593del | |
| NG_028005.1:g.70148_70151del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*250_*253del MANE Select | ENSP00000497829.1:n.*250_*253del | |
| ENST00000649830.1:c.*368_*371del | ENSP00000496907.1:n.*368_*371del | |
| ENST00000652550.1:n.1458_1461del | ||
| ENST00000293780.4:c.*250_*253del | ENSP00000293780.4:n.*250_*253del | |
| ENST00000572438.1:n.1418_1421del | ||
| NM_000080.3:c.*250_*253del | NP_000071.1:n.*250_*253del | |
| NM_000080.4:c.*250_*253del MANE Select | NP_000071.1:n.*250_*253del | |
| XM_017024115.1:c.*250_*253del | XP_016879604.1:n.*250_*253del |