gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000074 (EAS)
Genomes Max Group AF
0.0000683 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98531748_98531750del , CM000674.2:g.98531748_98531750del | GRCh38 |
| NC_000012.11:g.98925526_98925528del , CM000674.1:g.98925526_98925528del | GRCh37 |
| NC_000012.10:g.97449657_97449659del | NCBI36 |
| NG_021393.1:g.21176_21178del , LRG_443:g.21176_21178del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556029.6:c.475_477del MANE Select | ENSP00000450627.1:p.Ser159del | |
| ENST00000261210.9:c.475_477del | ENSP00000261210.5:p.Ser159del | |
| ENST00000266732.8:c.475_477del | ENSP00000266732.4:p.Ser159del | |
| ENST00000343315.9:c.475_477del | ENSP00000340251.5:p.Ser159del | |
| ENST00000393053.6:c.475_477del | ENSP00000376773.2:p.Ser159del | |
| ENST00000546828.6:n.533_535del | ||
| ENST00000547214.1:n.197_199del | ||
| ENST00000549938.5:n.462_464del | ||
| ENST00000552831.1:n.553_555del | ||
| ENST00000556029.5:c.475_477del | ENSP00000450627.1:p.Ser159del | |
| ENST00000556678.1:c.196_198del | ENSP00000451552.1:p.Ser66del | |
| NM_001032283.2:c.475_477del , LRG_443t1:c.475_477del | NP_001027454.1:p.Ser159del | |
| NM_001032284.2:c.475_477del | NP_001027455.1:p.Ser159del | |
| NM_001307975.1:c.475_477del | NP_001294904.1:p.Ser159del | |
| NM_003276.2:c.475_477del , LRG_443t2:c.475_477del | NP_003267.1:p.Ser159del | |
| XM_005269132.2:c.475_477del | XP_005269189.1:p.Ser159del | |
| XM_005269132.4:c.475_477del | XP_005269189.1:p.Ser159del | |
| XM_017019914.2:c.-432_-430del | XP_016875403.1:n.-432_-430del | |
| NM_001032283.3:c.475_477del MANE Select | NP_001027454.1:p.Ser159del | |
| NM_001032284.3:c.475_477del | NP_001027455.1:p.Ser159del | |
| NM_001307975.2:c.475_477del | NP_001294904.1:p.Ser159del |