Linked Data
dbSNP Id:
rs1323129700
gnomAD v2:
15-61440489-TC-T
gnomAD v3:
15-61148290-TC-T
gnomAD v4:
15-61148290-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.61148292del , CM000677.2:g.61148292del | GRCh38 |
| NC_000015.9:g.61440491del , CM000677.1:g.61440491del | GRCh37 |
| NC_000015.8:g.59227783del | NCBI36 |
| NG_029246.1:g.86013del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.166+80762del MANE Select | ENSP00000335087.6:n.166+80762del | |
| ENST00000335670.10:c.166+80762del | ENSP00000335087.6:n.166+80762del | |
| ENST00000551975.5:c.81+80762del | ||
| ENST00000557822.5:n.191+80762del | ||
| ENST00000559145.1:n.173+80762del | ||
| ENST00000560300.1:n.181+80762del | ||
| ENST00000561093.1:n.179+80762del | ||
| NM_134261.2:c.166+80762del | NP_599023.1:n.166+80762del | |
| XM_011521878.1:c.-328+80762del | XP_011520180.1:n.-328+80762del | |
| XM_011521878.2:c.-328+80762del | XP_011520180.1:n.-328+80762del | |
| NM_134261.3:c.166+80762del MANE Select | NP_599023.1:n.166+80762del |