Linked Data
ClinVar Variation Id:
2191063
dbSNP Id:
rs1309760639
gnomAD v3:
15-66485135-AAGG-A
gnomAD v4:
15-66485135-AAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485138_66485140del , CM000677.2:g.66485138_66485140del | GRCh38 |
| NC_000015.9:g.66777476_66777478del , CM000677.1:g.66777476_66777478del | GRCh37 |
| NC_000015.8:g.64564530_64564532del | NCBI36 |
| NG_008305.1:g.103266_103268del , LRG_725:g.103266_103268del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.628-2090_628-2088del | ENSP00000508681.1:n.628-2090_628-2088del | |
| ENST00000685172.1:c.842_844del | ENSP00000509604.1:p.Gly281del | |
| ENST00000685763.1:c.695_697del | ENSP00000509016.1:p.Gly232del | |
| ENST00000686347.1:c.569-2090_569-2088del | ENSP00000509027.1:n.569-2090_569-2088del | |
| ENST00000687191.1:n.1200_1202del | ||
| ENST00000687481.1:n.257_259del | ||
| ENST00000689951.1:c.893_895del | ENSP00000509308.1:p.Gly298del | |
| ENST00000691077.1:c.*79_*81del | ENSP00000509843.1:n.*79_*81del | |
| ENST00000691576.1:c.713_715del | ENSP00000510066.1:p.Gly238del | |
| ENST00000691937.1:c.842_844del | ENSP00000508768.1:p.Gly281del | |
| ENST00000692487.1:c.*79_*81del | ENSP00000509534.1:n.*79_*81del | |
| ENST00000692683.1:c.776_778del | ENSP00000508437.1:p.Gly259del | |
| ENST00000693150.1:c.698_700del | ENSP00000510309.1:p.Gly233del | |
| ENST00000307102.10:c.842_844del MANE Select | ENSP00000302486.5:p.Gly281del | |
| ENST00000307102.9:c.842_844del | ENSP00000302486.4:p.Gly281del | |
| ENST00000566326.1:c.314_316del | ENSP00000456438.1:p.Gly105del | |
| NM_002755.3:c.842_844del , LRG_725t1:c.842_844del | NP_002746.1:p.Gly281del | |
| XM_011521783.1:c.776_778del | XP_011520085.1:p.Gly259del | |
| XM_011521783.3:c.776_778del | XP_011520085.1:p.Gly259del | |
| XM_017022411.2:c.764_766del | XP_016877900.1:p.Gly255del | |
| XM_017022412.1:c.698_700del | XP_016877901.1:p.Gly233del | |
| XM_017022413.1:c.314_316del | XP_016877902.1:p.Gly105del | |
| NM_002755.4:c.842_844del MANE Select | NP_002746.1:p.Gly281del |