Linked Data
dbSNP Id:
rs775909947
ExAC:
15:22969144 CCT / C
gnomAD v2:
15-22969144-CCT-C
gnomAD v3:
15-22903921-CAG-C
gnomAD v4:
15-22903921-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22903922_22903923del , CM000677.2:g.22903922_22903923del | GRCh38 |
| NC_000015.9:g.22969145_22969146del , CM000677.1:g.22969145_22969146del | GRCh37 |
| NC_000015.8:g.20520586_20520587del | NCBI36 |
| NG_054889.1:g.81984_81985del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612288.2:c.2383-18_2383-17del | ENSP00000479802.2:n.2383-18_2383-17del | |
| ENST00000617928.5:c.2389-18_2389-17del MANE Select | ENSP00000481038.1:n.2389-18_2389-17del | |
| ENST00000610365.4:c.2389-18_2389-17del | ENSP00000478779.1:n.2389-18_2389-17del | |
| ENST00000617556.4:c.1096-18_1096-17del | ENSP00000480525.1:n.1096-18_1096-17del | |
| ENST00000617928.4:c.2389-18_2389-17del | ENSP00000481038.1:n.2389-18_2389-17del | |
| ENST00000619290.4:n.782-18_782-17del | ||
| ENST00000619348.4:n.1518_1519del | ||
| NM_001033028.1:c.1096-18_1096-17del | NP_001028200.1:n.1096-18_1096-17del | |
| NM_001287810.1:c.2389-18_2389-17del | NP_001274739.1:n.2389-18_2389-17del | |
| NM_014608.3:c.2389-18_2389-17del | NP_055423.1:n.2389-18_2389-17del | |
| XM_011543873.1:c.2788-18_2788-17del | XP_011542175.1:n.2788-18_2788-17del | |
| XM_011543874.1:c.2788-18_2788-17del | XP_011542176.1:n.2788-18_2788-17del | |
| XM_011543875.1:c.2788-18_2788-17del | XP_011542177.1:n.2788-18_2788-17del | |
| XM_011543876.1:c.2383-18_2383-17del | XP_011542178.1:n.2383-18_2383-17del | |
| NM_001033028.2:c.1096-18_1096-17del | NP_001028200.1:n.1096-18_1096-17del | |
| NM_001287810.3:c.2389-18_2389-17del | NP_001274739.1:n.2389-18_2389-17del | |
| NM_001324119.2:c.2491-18_2491-17del | NP_001311048.1:n.2491-18_2491-17del | |
| NM_001324120.2:c.2389-18_2389-17del | NP_001311049.1:n.2389-18_2389-17del | |
| NM_001324122.2:c.709-18_709-17del | NP_001311051.1:n.709-18_709-17del | |
| NM_001324123.2:c.2389-18_2389-17del | NP_001311052.1:n.2389-18_2389-17del | |
| NM_001324124.2:c.2299-18_2299-17del | NP_001311053.1:n.2299-18_2299-17del | |
| NM_001324125.2:c.2023-18_2023-17del | NP_001311054.1:n.2023-18_2023-17del | |
| NM_001324126.2:c.2287-18_2287-17del | NP_001311055.1:n.2287-18_2287-17del | |
| NM_014608.5:c.2389-18_2389-17del | NP_055423.1:n.2389-18_2389-17del | |
| XM_011543873.3:c.2788-18_2788-17del | XP_011542175.1:n.2788-18_2788-17del | |
| XM_011543874.2:c.2788-18_2788-17del | XP_011542176.1:n.2788-18_2788-17del | |
| XM_011543876.3:c.2485-18_2485-17del | XP_011542178.2:n.2485-18_2485-17del | |
| XM_017022023.2:c.2890-18_2890-17del | XP_016877512.1:n.2890-18_2890-17del | |
| XM_017022024.2:c.2788-18_2788-17del | XP_016877513.1:n.2788-18_2788-17del | |
| XM_024449876.1:c.2788-18_2788-17del | XP_024305644.1:n.2788-18_2788-17del | |
| XM_024449877.1:c.2389-18_2389-17del | XP_024305645.1:n.2389-18_2389-17del | |
| NM_014608.6:c.2389-18_2389-17del MANE Select | NP_055423.1:n.2389-18_2389-17del | |
| NM_001287810.4:c.2389-18_2389-17del | NP_001274739.1:n.2389-18_2389-17del | |
| NM_001324122.3:c.709-18_709-17del | NP_001311051.1:n.709-18_709-17del | |
| NM_001324123.3:c.2389-18_2389-17del | NP_001311052.1:n.2389-18_2389-17del | |
| NM_001324124.3:c.2299-18_2299-17del | NP_001311053.1:n.2299-18_2299-17del | |
| NM_001324125.3:c.2023-18_2023-17del | NP_001311054.1:n.2023-18_2023-17del | |
| NM_001324126.3:c.2287-18_2287-17del | NP_001311055.1:n.2287-18_2287-17del | |
| NM_001033028.3:c.1096-18_1096-17del | NP_001028200.1:n.1096-18_1096-17del |