Linked Data
ClinVar Variation Id:
267703
dbSNP Id:
rs886040945
gnomAD v4:
13-32376642-TGAATTAATAATCCTTTTGTTTTCTTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376646_32376671del , CM000675.2:g.32376646_32376671del | GRCh38 |
| NC_000013.10:g.32950783_32950808del , CM000675.1:g.32950783_32950808del | GRCh37 |
| NC_000013.9:g.31848783_31848808del | NCBI36 |
| NG_012772.3:g.66167_66192del , LRG_293:g.66167_66192del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8633-24_8634del | ||
| ENST00000528762.2:c.8697-24_*1del | ||
| ENST00000530893.7:c.8264-24_8265del | ||
| ENST00000665585.2:c.*195-24_*196del | ||
| ENST00000666593.2:c.8633-24_8634del | ||
| ENST00000700202.2:c.8633-24_8634del | ||
| ENST00000700202.1:c.1100-24_1101del | ||
| ENST00000700203.1:n.736_761del | ||
| ENST00000380152.8:c.8633-24_8634del | ||
| ENST00000544455.6:c.8633-24_8634del | ||
| ENST00000614259.2:c.8641-24_8642del | ||
| ENST00000665585.1:c.1511-24_1512del | ||
| ENST00000680887.1:c.8633-24_8634del | ||
| ENST00000380152.7:c.8633-24_8634del | ||
| ENST00000528762.1:c.195-24_196del | ||
| ENST00000544455.5:c.8633-24_8634del | ||
| NM_000059.3:c.8633-24_8634del , LRG_293t1:c.8633-24_8634del | ||
| XM_011535203.1:c.8633-24_8634del | ||
| XM_011535204.1:c.8537-24_8538del | ||
| XM_011535205.1:c.8633-24_8634del | ||
| NM_000059.4:c.8633-24_8634del |