Linked Data
dbSNP Id:
rs2058974395
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868811_240868815del , CM000664.2:g.240868811_240868815del | GRCh38 |
| NC_000002.11:g.241808228_241808232del , CM000664.1:g.241808228_241808232del | GRCh37 |
| NC_000002.10:g.241456901_241456905del | NCBI36 |
| NG_008005.1:g.5067_5071del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-55_-51del | ENSP00000302620.3:n.-55_-51del | |
| NM_000030.2:c.-55_-51del | NP_000021.1:n.-55_-51del | |
| XR_924060.1:n.405+1418_405+1422del |