Linked Data
dbSNP Id:
rs934164613
gnomAD v2:
11-67352786-AC-A
gnomAD v3:
11-67585315-AC-A
gnomAD v4:
11-67585315-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585319del , CM000673.2:g.67585319del | GRCh38 |
| NC_000011.9:g.67352790del , CM000673.1:g.67352790del | GRCh37 |
| NC_000011.8:g.67109366del | NCBI36 |
| NG_012075.1:g.6725del , LRG_723:g.6725del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.336+78del | ENSP00000381604.1:n.336+78del | |
| ENST00000398606.10:c.336+78del MANE Select | ENSP00000381607.3:n.336+78del | |
| ENST00000646888.1:c.*52+78del | ENSP00000494477.1:n.*52+78del | |
| ENST00000398603.5:c.336+78del | ENSP00000381604.1:n.336+78del | |
| ENST00000398606.7:c.336+78del | ENSP00000381607.3:n.336+78del | |
| ENST00000467591.1:n.447+78del | ||
| ENST00000494593.1:n.1131+78del | ||
| ENST00000498765.5:c.399+78del | ||
| NM_000852.3:c.336+78del , LRG_723t1:c.336+78del | NP_000843.1:n.336+78del | |
| NM_000852.4:c.336+78del MANE Select | NP_000843.1:n.336+78del |