Linked Data
ClinVar Variation Id:
405258
ClinVar RCV Id:
RCV000458842
dbSNP Id:
rs1060500623
gnomAD v3:
11-2445294-TC-T
gnomAD v4:
11-2445294-TC-T
MyVariant Identifiers:
chr11:g.2466528del (hg19)
chr11:g.2466525del (hg19)
chr11:g.2445298del (hg38)
chr11:g.2445295del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445298del , CM000673.2:g.2445298del | GRCh38 |
| NC_000011.9:g.2466528del , CM000673.1:g.2466528del | GRCh37 |
| NC_000011.8:g.2423104del | NCBI36 |
| NG_008935.1:g.5308del , LRG_287:g.5308del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.24-85del | ENSP00000434560.2:n.24-85del | |
| ENST00000646564.2:c.200del | ENSP00000495806.2:p.Pro67ArgfsTer19 | |
| ENST00000155840.12:c.200del MANE Select | ENSP00000155840.2:p.Pro67ArgfsTer19 | |
| ENST00000155840.9:c.200del | ENSP00000155840.2:p.Pro67ArgfsTer19 | |
| ENST00000496887.6:c.24-85del | ENSP00000434560.1:n.24-85del | |
| NM_000218.2:c.200del , LRG_287t1:c.200del | NP_000209.2:p.Pro67ArgfsTer19 | |
| NM_000218.3:c.200del MANE Select | NP_000209.2:p.Pro67ArgfsTer19 |