Linked Data
ClinVar Variation Id:
161813
ClinVar RCV Id:
RCV000149349
dbSNP Id:
rs193920770
COSMIC:
COSM1178629
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219035422del , CM000664.2:g.219035422del | GRCh38 |
| NC_000002.11:g.219900144del , CM000664.1:g.219900144del | GRCh37 |
| NC_000002.10:g.219608388del | NCBI36 |
| NG_051336.1:g.11130del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341552.10:c.542+58del MANE Select | ENSP00000340776.5:n.542+58del | |
| ENST00000295729.6:c.405del | ENSP00000295729.2:p.Leu136SerfsTer13 | |
| ENST00000341552.9:c.542+58del | ENSP00000340776.5:n.542+58del | |
| ENST00000409865.7:c.509+58del | ENSP00000386945.3:n.509+58del | |
| ENST00000410037.5:c.347+58del | ENSP00000386258.1:n.347+58del | |
| ENST00000436631.5:c.347+58del | ENSP00000396836.1:n.347+58del | |
| ENST00000441968.5:c.-1178+58del | ENSP00000413377.2:n.-1178+58del | |
| ENST00000453220.5:c.542+58del | ENSP00000409117.1:n.542+58del | |
| ENST00000457968.5:c.509+58del | ENSP00000393483.1:n.509+58del | |
| ENST00000462848.5:n.524+58del | ||
| ENST00000463683.1:n.1026+58del | ||
| NM_001278295.1:c.509+58del | NP_001265224.1:n.509+58del | |
| NM_001278296.1:c.347+58del | NP_001265225.1:n.347+58del | |
| NM_152389.3:c.405del | NP_689602.2:p.Leu136SerfsTer13 | |
| NM_194302.3:c.542+58del | NP_919278.2:n.542+58del | |
| XM_011510903.1:c.545+58del | XP_011509205.1:n.545+58del | |
| XM_011510904.1:c.545+58del | XP_011509206.1:n.545+58del | |
| XM_011510905.1:c.542+58del | XP_011509207.1:n.542+58del | |
| XM_011510906.1:c.542+58del | XP_011509208.1:n.542+58del | |
| XM_011510907.1:c.542+58del | XP_011509209.1:n.542+58del | |
| XM_011510908.1:c.542+58del | XP_011509210.1:n.542+58del | |
| XM_011510909.1:c.542+58del | XP_011509211.1:n.542+58del | |
| XM_011510910.1:c.545+58del | XP_011509212.1:n.545+58del | |
| XM_011510911.1:c.347+58del | XP_011509213.1:n.347+58del | |
| XM_011510912.1:c.347+58del | XP_011509214.1:n.347+58del | |
| XM_011510913.1:c.347+58del | XP_011509215.1:n.347+58del | |
| XM_011510914.1:c.347+58del | XP_011509216.1:n.347+58del | |
| XM_011510915.1:c.347+58del | XP_011509217.1:n.347+58del | |
| XM_011510916.1:c.545+58del | XP_011509218.1:n.545+58del | |
| XM_011510917.1:c.347+58del | XP_011509219.1:n.347+58del | |
| XM_011510918.1:c.347+58del | XP_011509220.1:n.347+58del | |
| XM_011510919.1:c.545+58del | XP_011509221.1:n.545+58del | |
| XM_011510920.1:c.545+58del | XP_011509222.1:n.545+58del | |
| XM_011510904.2:c.545+58del | XP_011509206.1:n.545+58del | |
| XM_017003752.1:c.542+58del | XP_016859241.1:n.542+58del | |
| XM_017003753.1:c.509+58del | XP_016859242.1:n.509+58del | |
| XM_017003754.1:c.347+58del | XP_016859243.1:n.347+58del | |
| XM_017003755.1:c.347+58del | XP_016859244.1:n.347+58del | |
| NM_194302.4:c.542+58del MANE Select | NP_919278.2:n.542+58del | |
| NM_001278296.2:c.347+58del | NP_001265225.1:n.347+58del | |
| NM_152389.4:c.405del | NP_689602.2:p.Leu136SerfsTer13 |