Linked Data
ClinVar Variation Id:
446447
ClinVar RCV Id:
RCV000515683
dbSNP Id:
rs1554874879
PubMed:
PMID:25963016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71793595del , CM000672.2:g.71793595del | GRCh38 |
| NC_000010.10:g.73553352del , CM000672.1:g.73553352del | GRCh37 |
| NC_000010.9:g.73223358del | NCBI36 |
| NG_008835.1:g.401649del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6667del MANE Select | ENSP00000224721.9:p.Leu2223TrpfsTer11 | |
| ENST00000224721.10:c.6682del | ENSP00000224721.8:p.Leu2228TrpfsTer11 | |
| ENST00000622827.4:c.6667del | ENSP00000483211.1:p.Leu2223TrpfsTer11 | |
| NM_022124.5:c.6667del | NP_071407.4:p.Leu2223TrpfsTer11 | |
| XM_006717940.2:c.6862del | XP_006718003.1:p.Leu2288TrpfsTer11 | |
| XM_006717942.2:c.6796del | XP_006718005.1:p.Leu2266TrpfsTer11 | |
| XM_011540039.1:c.6859del | XP_011538341.1:p.Leu2287TrpfsTer11 | |
| XM_011540040.1:c.6856del | XP_011538342.1:p.Leu2286TrpfsTer11 | |
| XM_011540041.1:c.6802del | XP_011538343.1:p.Leu2268TrpfsTer11 | |
| XM_011540042.1:c.6772del | XP_011538344.1:p.Leu2258TrpfsTer11 | |
| XM_011540043.1:c.6862del | XP_011538345.1:p.Leu2288TrpfsTer11 | |
| XM_011540044.1:c.6727del | XP_011538346.1:p.Leu2243TrpfsTer11 | |
| XM_011540045.1:c.6862del | XP_011538347.1:p.Leu2288TrpfsTer11 | |
| XM_011540046.1:c.6322del | XP_011538348.1:p.Leu2108TrpfsTer11 | |
| XM_011540047.1:c.5680del | XP_011538349.1:p.Leu1894TrpfsTer11 | |
| XM_011540048.1:c.6862del | XP_011538350.1:p.Leu2288TrpfsTer11 | |
| XM_011540049.1:c.6862del | XP_011538351.1:p.Leu2288TrpfsTer11 | |
| XM_011540050.1:c.6862del | XP_011538352.1:p.Leu2288TrpfsTer11 | |
| XM_011540051.1:c.6862del | XP_011538353.1:p.Leu2288TrpfsTer11 | |
| XM_011540052.1:c.3190del | XP_011538354.1:p.Leu1064TrpfsTer11 | |
| XR_945796.1:n.7105del | ||
| NM_022124.6:c.6667del MANE Select | NP_071407.4:p.Leu2223TrpfsTer11 |