Linked Data
dbSNP Id:
rs1448250031
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660654_152660656del , CM000669.2:g.152660654_152660656del | GRCh38 |
| NC_000007.13:g.152357739_152357741del , CM000669.1:g.152357739_152357741del | GRCh37 |
| NC_000007.12:g.151988672_151988674del | NCBI36 |
| NG_027988.1:g.20510_20512del | |
| NG_027988.2:g.20510_20512del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.-47-11293_-47-11291del | ENSP00000513758.1:n.-47-11293_-47-11291de... | |
| ENST00000698507.1:n.234_236del | ||
| ENST00000359321.2:c.121+45_121+47del MANE Select | ENSP00000352271.1:n.121+45_121+47del | |
| ENST00000359321.1:c.121+45_121+47del | ENSP00000352271.1:n.121+45_121+47del | |
| ENST00000495707.1:n.143+45_143+47del | ||
| NM_005431.1:c.121+45_121+47del | NP_005422.1:n.121+45_121+47del | |
| NM_005431.2:c.121+45_121+47del MANE Select | NP_005422.1:n.121+45_121+47del |