Linked Data
ClinVar Variation Id:
2678947
ClinVar RCV Id:
RCV003472923
dbSNP Id:
rs1352968108
gnomAD v2:
11-118897793-TC-T
gnomAD v4:
11-119027083-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119027085del , CM000673.2:g.119027085del | GRCh38 |
| NC_000011.9:g.118897795del , CM000673.1:g.118897795del | GRCh37 |
| NC_000011.8:g.118403005del | NCBI36 |
| NG_013331.1:g.8822del , LRG_187:g.8822del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.867del | ||
| ENST00000697845.1:n.791del | ||
| ENST00000697846.1:n.867del | ||
| ENST00000697847.1:n.867del | ||
| ENST00000697848.1:n.867del | ||
| ENST00000697849.1:n.1906del | ||
| ENST00000697850.1:n.867del | ||
| ENST00000697851.1:n.2227del | ||
| ENST00000638186.1:n.941del | ||
| ENST00000638360.1:n.773del | ||
| ENST00000638925.1:n.874del | ||
| ENST00000650539.1:n.1043del | ||
| ENST00000330775.9:c.637del | ENSP00000476242.2:p.Glu213ArgfsTer27 | |
| ENST00000357590.9:c.637del | ENSP00000476176.2:p.Glu213ArgfsTer27 | |
| ENST00000524428.5:n.959del | ||
| ENST00000525039.5:n.1061del | ||
| ENST00000525102.5:n.1395del | ||
| ENST00000525372.5:n.638del | ||
| ENST00000526275.5:n.1419del | ||
| ENST00000526626.6:n.600del | ||
| ENST00000527992.5:n.865del | ||
| ENST00000529510.5:n.411del | ||
| ENST00000530407.5:n.787del | ||
| ENST00000532085.1:n.3248del | ||
| ENST00000532888.6:n.933del | ||
| ENST00000538950.5:c.418del | ENSP00000475991.2:p.Glu140ArgfsTer27 | |
| ENST00000545985.5:c.637del | ENSP00000475241.2:p.Glu213ArgfsTer27 | |
| NM_001164277.1:c.637del , LRG_187t1:c.637del | NP_001157749.1:p.Glu213ArgfsTer27 | |
| NM_001164278.1:c.637del | NP_001157750.1:p.Glu213ArgfsTer27 | |
| NM_001164279.1:c.418del | NP_001157751.1:p.Glu140ArgfsTer27 | |
| NM_001164280.1:c.637del | NP_001157752.1:p.Glu213ArgfsTer27 | |
| NM_001467.5:c.637del | NP_001458.1:p.Glu213ArgfsTer27 | |
| NM_001164278.2:c.637del | NP_001157750.1:p.Glu213ArgfsTer27 | |
| NM_001164279.2:c.418del | NP_001157751.1:p.Glu140ArgfsTer27 | |
| NM_001164280.2:c.637del | NP_001157752.1:p.Glu213ArgfsTer27 | |
| NM_001467.6:c.637del | NP_001458.1:p.Glu213ArgfsTer27 | |
| NM_001164277.2:c.637del MANE Select | NP_001157749.1:p.Glu213ArgfsTer27 |