Linked Data
dbSNP Id:
rs1290067670
gnomAD v2:
15-78805833-TA-T
gnomAD v3:
15-78513491-TA-T
gnomAD v4:
15-78513491-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78513492del , CM000677.2:g.78513492del | GRCh38 |
| NC_000015.9:g.78805834del , CM000677.1:g.78805834del | GRCh37 |
| NC_000015.8:g.76592889del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388988.9:c.337+67del MANE Select | ENSP00000373640.4:n.337+67del | |
| ENST00000388988.8:c.337+67del | ENSP00000373640.4:n.337+67del | |
| ENST00000408962.6:c.337+67del | ENSP00000386197.2:n.337+67del | |
| ENST00000563233.2:c.337+67del | ENSP00000454850.1:n.337+67del | |
| ENST00000566289.5:c.337+67del | ENSP00000456614.1:n.337+67del | |
| ENST00000566332.5:c.337+67del | ENSP00000457154.1:n.337+67del | |
| ENST00000569878.5:c.337+67del | ENSP00000455459.1:n.337+67del | |
| NM_001013619.2:c.337+67del | NP_001013641.2:n.337+67del | |
| NM_001083612.1:c.337+67del | NP_001077081.1:n.337+67del | |
| XM_011521231.1:c.337+67del | XP_011519533.1:n.337+67del | |
| XR_243078.3:n.432+67del | ||
| NM_001013619.3:c.337+67del | NP_001013641.2:n.337+67del | |
| NM_001013619.4:c.337+67del MANE Select | NP_001013641.2:n.337+67del | |
| NM_001083612.2:c.337+67del | NP_001077081.1:n.337+67del |