Linked Data
dbSNP Id:
rs752298939
gnomAD v2:
14-50647598-GAAGAA-G
gnomAD v3:
14-50180880-GAAGAA-G
gnomAD v4:
14-50180880-GAAGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50180881_50180885del , CM000676.2:g.50180881_50180885del | GRCh38 |
| NC_000014.8:g.50647599_50647603del , CM000676.1:g.50647599_50647603del | GRCh37 |
| NC_000014.7:g.49717349_49717353del | NCBI36 |
| NG_051073.1:g.55809_55813del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.859-203_859-199del MANE Select | ENSP00000216373.5:n.859-203_859-199del | |
| ENST00000216373.9:c.859-203_859-199del | ENSP00000216373.5:n.859-203_859-199del | |
| ENST00000543680.5:c.859-203_859-199del | ENSP00000445328.1:n.859-203_859-199del | |
| NM_006939.2:c.859-203_859-199del | NP_008870.2:n.859-203_859-199del | |
| XM_005268021.1:c.679-203_679-199del | XP_005268078.1:n.679-203_679-199del | |
| XM_011537103.1:c.820-203_820-199del | XP_011535405.1:n.820-203_820-199del | |
| XM_011537104.1:c.859-203_859-199del | XP_011535406.1:n.859-203_859-199del | |
| XR_943842.1:n.954-2906_954-2902del | ||
| XR_943843.1:n.954-2906_954-2902del | ||
| NM_006939.3:c.859-203_859-199del | NP_008870.2:n.859-203_859-199del | |
| NM_006939.4:c.859-203_859-199del MANE Select | NP_008870.2:n.859-203_859-199del |