Linked Data
dbSNP Id:
rs1756689447
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1431070_1431072del , CM000667.2:g.1431070_1431072del | GRCh38 |
| NC_000005.9:g.1431185_1431187del , CM000667.1:g.1431185_1431187del | GRCh37 |
| NC_000005.8:g.1484185_1484187del | NCBI36 |
| NG_015885.1:g.19357_19359del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.653+1392_653+1394del MANE Select | ENSP00000270349.9:n.653+1392_653+1394del | |
| ENST00000270349.11:c.653+1392_653+1394del | ENSP00000270349.9:n.653+1392_653+1394del | |
| NM_001044.4:c.653+1392_653+1394del | NP_001035.1:n.653+1392_653+1394del | |
| NM_001044.5:c.653+1392_653+1394del MANE Select | NP_001035.1:n.653+1392_653+1394del |