Linked Data
ClinVar Variation Id:
371100
ClinVar RCV Id:
RCV000410530
dbSNP Id:
rs1057517007
gnomAD v3:
11-66514425-GC-G
gnomAD v4:
11-66514425-GC-G
MyVariant Identifiers:
chr11:g.66281899del (hg19)
chr11:g.66281897del (hg19)
chr11:g.66514428del (hg38)
chr11:g.66514426del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66514428del , CM000673.2:g.66514428del | GRCh38 |
| NC_000011.9:g.66281899del , CM000673.1:g.66281899del | GRCh37 |
| NC_000011.8:g.66038475del | NCBI36 |
| NG_009093.1:g.8781del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318312.12:c.182del MANE Select | ENSP00000317469.7:p.Pro61LeufsTer8 | |
| ENST00000318312.11:c.182del | ENSP00000317469.7:p.Pro61LeufsTer8 | |
| ENST00000393994.4:c.182del | ENSP00000377563.2:p.Pro61LeufsTer8 | |
| ENST00000419755.3:c.293del | ENSP00000398526.3:p.Pro98LeufsTer8 | |
| ENST00000455748.6:c.182del | ENSP00000405764.2:p.Pro61LeufsTer8 | |
| ENST00000524458.5:c.57del | ENSP00000436195.1:p.Trp20GlyfsTer? | |
| ENST00000524705.2:c.-20-78del | ENSP00000436927.1:n.-20-78del | |
| ENST00000524907.5:n.172del | ||
| ENST00000525809.5:c.160-1112del | ENSP00000431187.1:n.160-1112del | |
| ENST00000526035.5:c.147del | ENSP00000434197.1:p.Trp50GlyfsTer? | |
| ENST00000526760.5:c.147del | ENSP00000432140.1:p.Trp50GlyfsTer? | |
| ENST00000526815.5:c.92del | ENSP00000436860.1:p.Pro31LeufsTer8 | |
| ENST00000527251.5:c.57del | ENSP00000434360.1:p.Trp20GlyfsTer? | |
| ENST00000529766.5:n.189del | ||
| ENST00000529955.5:n.200del | ||
| ENST00000532908.5:c.147del | ENSP00000431866.1:p.Trp50GlyfsTer? | |
| ENST00000533557.5:c.147del | ENSP00000434619.1:p.Trp50GlyfsTer? | |
| ENST00000533644.5:c.182del | ENSP00000436073.1:p.Pro61LeufsTer8 | |
| ENST00000534730.5:n.194del | ||
| ENST00000630659.2:c.147del | ENSP00000486455.1:p.Trp50GlyfsTer? | |
| NM_024649.4:c.182del | NP_078925.3:p.Pro61LeufsTer8 | |
| NM_024649.5:c.182del MANE Select | NP_078925.3:p.Pro61LeufsTer8 |