Linked Data
dbSNP Id:
rs1760298954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24146070_24146074del , CM000668.2:g.24146070_24146074del | GRCh38 |
| NC_000006.11:g.24146298_24146302del , CM000668.1:g.24146298_24146302del | GRCh37 |
| NC_000006.10:g.24254277_24254281del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.*124_*128del MANE Select | ENSP00000367752.4:n.*124_*128del | |
| ENST00000378478.5:c.*124_*128del | ENSP00000367739.2:n.*124_*128del | |
| ENST00000378491.8:c.*124_*128del | ENSP00000367752.4:n.*124_*128del | |
| ENST00000468195.2:n.257-8701_257-8697del | ||
| NM_080723.4:c.*124_*128del | NP_542454.3:n.*124_*128del | |
| NM_080723.5:c.*124_*128del MANE Select | NP_542454.3:n.*124_*128del |