Linked Data
ClinVar Variation Id:
37949
dbSNP Id:
rs80359492
gnomAD v2:
13-32900634-AG-A
gnomAD v3:
13-32326497-AG-A
gnomAD v4:
13-32326497-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32326500del , CM000675.2:g.32326500del | GRCh38 |
| NC_000013.10:g.32900637del , CM000675.1:g.32900637del | GRCh37 |
| NC_000013.9:g.31798637del | NCBI36 |
| NG_012772.3:g.16021del , LRG_293:g.16021del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.518del | ||
| ENST00000528762.2:c.518del | ||
| ENST00000530893.7:c.149del | ||
| ENST00000665585.2:c.518del | ||
| ENST00000666593.2:c.518del | ||
| ENST00000700202.2:c.518del | ||
| ENST00000700200.1:n.389del | ||
| ENST00000700201.1:c.*297del | ||
| ENST00000380152.8:c.518del | ||
| ENST00000544455.6:c.518del | ||
| ENST00000614259.2:c.518del | ||
| ENST00000680887.1:c.518del | ||
| ENST00000380152.7:c.518del | ||
| ENST00000530893.6:n.716del | ||
| ENST00000544455.5:c.518del | ||
| ENST00000614259.1:n.518del | ||
| NM_000059.3:c.518del , LRG_293t1:c.518del | ||
| XM_011535203.1:c.518del | ||
| XM_011535204.1:c.518del | ||
| XM_011535205.1:c.518del | ||
| NM_000059.4:c.518del |