Linked Data
ClinVar Variation Id:
53107
dbSNP Id:
rs397508125
gnomAD v2:
11-2594088-AC-A
gnomAD v3:
11-2572858-AC-A
gnomAD v4:
11-2572858-AC-A
MyVariant Identifiers:
chr11:g.2594091del (hg19)
chr11:g.2594089del (hg19)
chr11:g.2572861del (hg38)
chr11:g.2572859del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572861del , CM000673.2:g.2572861del | GRCh38 |
| NC_000011.9:g.2594091del , CM000673.1:g.2594091del | GRCh37 |
| NC_000011.8:g.2550667del | NCBI36 |
| NG_008935.1:g.132871del , LRG_287:g.132871del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.535del | ENSP00000434560.2:p.Leu179CysfsTer23 | |
| ENST00000646564.2:c.478-10574del | ENSP00000495806.2:n.478-10574del | |
| ENST00000155840.12:c.796del MANE Select | ENSP00000155840.2:p.Leu266CysfsTer23 | |
| ENST00000335475.6:c.415del | ENSP00000334497.5:p.Leu139CysfsTer23 | |
| ENST00000646564.1:c.124-10574del | ENSP00000495806.1:n.124-10574del | |
| ENST00000155840.9:c.796del | ENSP00000155840.2:p.Leu266CysfsTer23 | |
| ENST00000335475.5:c.415del | ENSP00000334497.5:p.Leu139CysfsTer23 | |
| ENST00000496887.6:c.535del | ENSP00000434560.1:p.Leu179CysfsTer? | |
| NM_000218.2:c.796del , LRG_287t1:c.796del | NP_000209.2:p.Leu266CysfsTer23 | |
| NM_181798.1:c.415del , LRG_287t2:c.415del | NP_861463.1:p.Leu139CysfsTer23 | |
| NM_000218.3:c.796del MANE Select | NP_000209.2:p.Leu266CysfsTer23 |