Linked Data
dbSNP Id:
rs1415709764
gnomAD v2:
15-89864861-AG-A
gnomAD v3:
15-89321630-AG-A
gnomAD v4:
15-89321630-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89321633del , CM000677.2:g.89321633del | GRCh38 |
| NC_000015.9:g.89864864del , CM000677.1:g.89864864del | GRCh37 |
| NC_000015.8:g.87665868del | NCBI36 |
| NG_008218.1:g.18165del | |
| NG_008218.2:g.18165del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2598+105del | ENSP00000516154.1:n.2598+105del | |
| ENST00000268124.11:c.2598+105del MANE Select | ENSP00000268124.5:n.2598+105del | |
| ENST00000530292.3:c.2199+105del | ENSP00000432885.2:n.2199+105del | |
| ENST00000635986.2:c.2598+105del | ENSP00000490653.2:n.2598+105del | |
| ENST00000636774.1:c.*1165+105del | ENSP00000489799.1:n.*1165+105del | |
| ENST00000637238.1:c.1295+105del | ENSP00000490756.1:n.1295+105del | |
| ENST00000637264.1:c.1670+105del | ||
| ENST00000666746.1:c.2175+105del | ||
| ENST00000670281.1:c.800+331del | ENSP00000499709.1:n.800+331del | |
| ENST00000672071.1:n.2796+105del | ||
| ENST00000672923.2:n.2540+105del | ||
| ENST00000268124.9:c.2598+105del | ENSP00000268124.5:n.2598+105del | |
| ENST00000442287.6:c.2598+105del | ENSP00000399851.2:n.2598+105del | |
| ENST00000528881.2:c.196-371del | ||
| ENST00000530715.5:c.186-762del | ENSP00000431395.1:n.186-762del | |
| ENST00000631044.2:c.*2022+105del | ENSP00000486730.1:n.*2022+105del | |
| NM_001126131.1:c.2598+105del | NP_001119603.1:n.2598+105del | |
| NM_002693.2:c.2598+105del | NP_002684.1:n.2598+105del | |
| NM_001126131.2:c.2598+105del | NP_001119603.1:n.2598+105del | |
| NM_002693.3:c.2598+105del MANE Select | NP_002684.1:n.2598+105del |