Linked Data
ClinVar Variation Id:
1457717
ClinVar RCV Id:
RCV001949314
dbSNP Id:
rs1442498340
gnomAD v2:
15-89861925-TGTAA-T
gnomAD v4:
15-89318694-TGTAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318698_89318701del , CM000677.2:g.89318698_89318701del | GRCh38 |
| NC_000015.9:g.89861929_89861932del , CM000677.1:g.89861929_89861932del | GRCh37 |
| NC_000015.8:g.87662933_87662936del | NCBI36 |
| NG_008218.1:g.21098_21101del | |
| NG_011736.1:g.79736_79739del , LRG_500:g.79736_79739del | |
| NG_008218.2:g.21098_21101del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3325_3328del | ENSP00000516154.1:p.Leu1109ThrfsTer7 | |
| ENST00000268124.11:c.3325_3328del MANE Select | ENSP00000268124.5:p.Leu1109ThrfsTer7 | |
| ENST00000530292.3:c.2926_2929del | ENSP00000432885.2:p.Leu976ThrfsTer7 | |
| ENST00000635986.2:c.*395_*398del | ENSP00000490653.2:n.*395_*398del | |
| ENST00000636774.1:c.*1892_*1895del | ENSP00000489799.1:n.*1892_*1895del | |
| ENST00000637238.1:c.2134_2137del | ENSP00000490756.1:n.2134_2137del | |
| ENST00000637264.1:c.2397_2400del | ||
| ENST00000666746.1:c.2902_2905del | ||
| ENST00000672071.1:n.3523_3526del | ||
| ENST00000672695.1:n.502_505del | ||
| ENST00000672923.2:n.3325_3328del | ||
| ENST00000268124.9:c.3325_3328del | ENSP00000268124.5:p.Leu1109ThrfsTer7 | |
| ENST00000442287.6:c.3325_3328del | ENSP00000399851.2:p.Leu1109ThrfsTer7 | |
| ENST00000530292.2:c.409_412del | ENSP00000432885.1:p.Leu137ThrfsTer7 | |
| ENST00000631044.2:c.*2749_*2752del | ENSP00000486730.1:n.*2749_*2752del | |
| NM_001126131.1:c.3325_3328del | NP_001119603.1:p.Leu1109ThrfsTer7 | |
| NM_002693.2:c.3325_3328del | NP_002684.1:p.Leu1109ThrfsTer7 | |
| NM_001126131.2:c.3325_3328del | NP_001119603.1:p.Leu1109ThrfsTer7 | |
| NM_002693.3:c.3325_3328del MANE Select | NP_002684.1:p.Leu1109ThrfsTer7 |