Linked Data
ClinVar Variation Id:
552905
ClinVar RCV Id:
RCV000668254
dbSNP Id:
rs1474282972
gnomAD v2:
11-118898367-AG-A
gnomAD v4:
11-119027657-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027659del , CM000673.2:g.119027659del | GRCh38 |
| NC_000011.9:g.118898369del , CM000673.1:g.118898369del | GRCh37 |
| NC_000011.8:g.118403579del | NCBI36 |
| NG_013331.1:g.8248del , LRG_187:g.8248del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.825del | ||
| ENST00000697845.1:n.749del | ||
| ENST00000697846.1:n.825del | ||
| ENST00000697847.1:n.825del | ||
| ENST00000697848.1:n.825del | ||
| ENST00000697849.1:n.1864del | ||
| ENST00000697850.1:n.825del | ||
| ENST00000697851.1:n.2185del | ||
| ENST00000638186.1:n.899del | ||
| ENST00000638360.1:n.731del | ||
| ENST00000638925.1:n.832del | ||
| ENST00000650539.1:n.1001del | ||
| ENST00000330775.9:c.595del | ENSP00000476242.2:p.Leu199TrpfsTer13 | |
| ENST00000357590.9:c.595del | ENSP00000476176.2:p.Leu199TrpfsTer13 | |
| ENST00000524428.5:n.917del | ||
| ENST00000525039.5:n.1019del | ||
| ENST00000525102.5:n.1353del | ||
| ENST00000525372.5:n.596del | ||
| ENST00000526275.5:n.1377del | ||
| ENST00000526626.6:n.558del | ||
| ENST00000527992.5:n.823del | ||
| ENST00000529510.5:n.399+536del | ||
| ENST00000530407.5:n.745del | ||
| ENST00000532085.1:n.3206del | ||
| ENST00000532888.6:n.891del | ||
| ENST00000538950.5:c.376del | ENSP00000475991.2:p.Leu126TrpfsTer13 | |
| ENST00000545985.5:c.595del | ENSP00000475241.2:p.Leu199TrpfsTer13 | |
| NM_001164277.1:c.595del , LRG_187t1:c.595del | NP_001157749.1:p.Leu199TrpfsTer13 | |
| NM_001164278.1:c.595del | NP_001157750.1:p.Leu199TrpfsTer13 | |
| NM_001164279.1:c.376del | NP_001157751.1:p.Leu126TrpfsTer13 | |
| NM_001164280.1:c.595del | NP_001157752.1:p.Leu199TrpfsTer13 | |
| NM_001467.5:c.595del | NP_001458.1:p.Leu199TrpfsTer13 | |
| NM_001164278.2:c.595del | NP_001157750.1:p.Leu199TrpfsTer13 | |
| NM_001164279.2:c.376del | NP_001157751.1:p.Leu126TrpfsTer13 | |
| NM_001164280.2:c.595del | NP_001157752.1:p.Leu199TrpfsTer13 | |
| NM_001467.6:c.595del | NP_001458.1:p.Leu199TrpfsTer13 | |
| NM_001164277.2:c.595del MANE Select | NP_001157749.1:p.Leu199TrpfsTer13 |