Linked Data
ClinVar Variation Id:
586795
dbSNP Id:
rs1288094664
gnomAD v2:
12-121432070-AAAG-A
gnomAD v4:
12-120994267-AAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120994274_120994276del , CM000674.2:g.120994274_120994276del | GRCh38 |
| NC_000012.11:g.121432077_121432079del , CM000674.1:g.121432077_121432079del | GRCh37 |
| NC_000012.10:g.119916460_119916462del | NCBI36 |
| NG_011731.2:g.20529_20531del , LRG_522:g.20529_20531del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.750+74_750+76del | ENSP00000453965.2:n.750+74_750+76del | |
| ENST00000257555.11:c.824_826del MANE Select | ENSP00000257555.5:p.Glu275del | |
| ENST00000257555.10:c.824_826del | ENSP00000257555.4:p.Glu275del | |
| ENST00000400024.6:c.824_826del | ENSP00000476181.1:p.Glu275del | |
| ENST00000402929.5:n.959_961del | ||
| ENST00000535955.5:n.43-3217_43-3215del | ||
| ENST00000538626.2:n.191-3217_191-3215del | ||
| ENST00000538646.5:c.637_639del | ENSP00000443964.1:p.Lys213del | |
| ENST00000540108.1:c.*264_*266del | ENSP00000445445.1:n.*264_*266del | |
| ENST00000541395.5:c.824_826del | ENSP00000443112.1:p.Glu275del | |
| ENST00000541924.5:c.713+568_713+570del | ENSP00000440361.1:n.713+568_713+570del | |
| ENST00000543427.5:c.633+648_633+650del | ENSP00000439721.2:n.633+648_633+650del | |
| ENST00000544413.2:c.824_826del | ENSP00000438804.1:p.Glu275del | |
| ENST00000544574.5:c.73-2343_73-2341del | ENSP00000438565.1:n.73-2343_73-2341del | |
| ENST00000560968.5:c.893+74_893+76del | ||
| ENST00000615446.4:c.-257-1988_-257-1986del | ENSP00000483994.1:n.-257-1988_-257-1986del | |
| ENST00000617366.4:c.586+695_586+697del | ENSP00000481967.1:n.586+695_586+697del | |
| NM_000545.5:c.824_826del , LRG_522t1:c.824_826del | NP_000536.5:p.Glu275del | |
| NM_000545.6:c.824_826del | NP_000536.5:p.Glu275del | |
| NM_001306179.1:c.824_826del | NP_001293108.1:p.Glu275del | |
| XM_005253931.2:c.824_826del | XP_005253988.1:p.Glu275del | |
| XM_024449168.1:c.824_826del | XP_024304936.1:p.Glu275del | |
| NM_000545.8:c.824_826del MANE Select | NP_000536.6:p.Glu275del | |
| NM_001306179.2:c.824_826del | NP_001293108.2:p.Glu275del |