Linked Data
ClinVar Variation Id:
817116
ClinVar RCV Id:
RCV001008219
dbSNP Id:
rs1587186105
gnomAD v3:
8-102232242-CTT-C
gnomAD v4:
8-102232242-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102232244_102232245del , CM000670.2:g.102232244_102232245del | GRCh38 |
| NC_000008.10:g.103244472_103244473del , CM000670.1:g.103244472_103244473del | GRCh37 |
| NC_000008.9:g.103313648_103313649del | NCBI36 |
| NG_016617.1:g.11875_11876del , LRG_788:g.11875_11876del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.109_110del MANE Select | ENSP00000251810.3:p.Lys37GlufsTer14 | |
| ENST00000251810.7:c.109_110del | ENSP00000251810.3:p.Lys37GlufsTer14 | |
| ENST00000395912.6:c.49-6210_49-6209del | ENSP00000379248.2:n.49-6210_49-6209del | |
| ENST00000517517.1:n.418_419del | ||
| ENST00000519317.5:c.48+6583_48+6584del | ENSP00000430641.1:n.48+6583_48+6584del | |
| ENST00000519962.5:c.48+6583_48+6584del | ENSP00000429140.1:n.48+6583_48+6584del | |
| ENST00000522368.5:c.278_279del | ||
| ENST00000522394.1:c.109_110del | ENSP00000429578.1:p.Lys37GlufsTer? | |
| ENST00000523957.1:c.*32_*33del | ENSP00000427830.1:n.*32_*33del | |
| ENST00000621845.1:c.-54_-53del | ENSP00000484318.1:n.-54_-53del | |
| NM_001172477.1:c.325_326del , LRG_788t1:c.325_326del | NP_001165948.1:p.Lys109GlufsTer14 | |
| NM_001172478.1:c.49-6210_49-6209del | NP_001165949.1:n.49-6210_49-6209del | |
| NM_015713.4:c.109_110del , LRG_788t2:c.109_110del | NP_056528.2:p.Lys37GlufsTer14 | |
| NM_001172478.2:c.49-6210_49-6209del | NP_001165949.1:n.49-6210_49-6209del | |
| NM_015713.5:c.109_110del MANE Select | NP_056528.2:p.Lys37GlufsTer14 |