Linked Data
dbSNP Id:
rs1478680274
gnomAD v2:
15-30898543-AAG-A
gnomAD v3:
15-30606340-AAG-A
gnomAD v4:
15-30606340-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.30606342_30606343del , CM000677.2:g.30606342_30606343del | GRCh38 |
| NC_000015.9:g.30898545_30898546del , CM000677.1:g.30898545_30898546del | GRCh37 |
| NC_000015.8:g.28685837_28685838del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000566740.2:c.168+380_168+381del (GOLGA8H) MANE Select | ENSP00000456894.1:n.168+380_168+381del | |
| ENST00000566740.1:c.168+380_168+381del (GOLGA8H) | ENSP00000456894.1:n.168+380_168+381del | |
| NM_001282490.1:c.168+380_168+381del (GOLGA8H) | NP_001269419.1:n.168+380_168+381del | |
| XM_006720672.2:c.129+380_129+381del (GOLGA8H) | XP_006720735.1:n.129+380_129+381del | |
| XM_011521990.1:c.-286+380_-286+381del (GOLGA8H) | XP_011520292.1:n.-286+380_-286+381del | |
| XM_011522274.1:c.-308+1876_-308+1877del (DNM1P50) | XP_011520576.1:n.-308+1876_-308+1877del | |
| XM_011522275.1:c.-308+1876_-308+1877del (DNM1P50) | XP_011520577.1:n.-308+1876_-308+1877del | |
| XM_011522276.1:c.-308+1876_-308+1877del (DNM1P50) | XP_011520578.1:n.-308+1876_-308+1877del | |
| XM_011522278.1:c.-308+1876_-308+1877del (DNM1P50) | XP_011520580.1:n.-308+1876_-308+1877del | |
| XM_011522282.1:c.209+1876_209+1877del (DNM1P50) | XP_011520584.1:n.209+1876_209+1877del | |
| XM_011522283.1:c.209+1876_209+1877del (DNM1P50) | XP_011520585.1:n.209+1876_209+1877del | |
| XR_932037.1:n.1044+1876_1044+1877del (DNM1P50) | ||
| XR_932039.1:n.1166+1876_1166+1877del (DNM1P50) | ||
| XR_932042.1:n.786+1876_786+1877del (DNM1P50) | ||
| XR_932043.1:n.707+18709_707+18710del (DNM1P50) | ||
| XR_932044.1:n.708-12050_708-12049del (DNM1P50) | ||
| XR_932045.1:n.707+18709_707+18710del (DNM1P50) | ||
| NR_157593.1:n.851-12050_851-12049del (ARHGAP11B-DT) | ||
| NR_157594.1:n.849+1876_849+1877del (ARHGAP11B-DT) | ||
| NR_157595.1:n.513-12050_513-12049del (ARHGAP11B-DT) | ||
| NM_001282490.2:c.168+380_168+381del (GOLGA8H) MANE Select | NP_001269419.1:n.168+380_168+381del |