Linked Data
dbSNP Id:
rs1447055392
gnomAD v3:
11-113414612-GGGAAGGC-G
gnomAD v4:
11-113414612-GGGAAGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113414613_113414619del , CM000673.2:g.113414613_113414619del | GRCh38 |
| NC_000011.9:g.113285335_113285341del , CM000673.1:g.113285335_113285341del | GRCh37 |
| NC_000011.8:g.112790545_112790551del | NCBI36 |
| NG_008841.1:g.65661_65667del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.724-158_724-152del MANE Select | ENSP00000354859.3:n.724-158_724-152del | |
| ENST00000346454.7:c.723+802_723+808del | ENSP00000278597.5:n.723+802_723+808del | |
| ENST00000362072.7:c.724-158_724-152del | ENSP00000354859.3:n.724-158_724-152del | |
| ENST00000535984.1:n.443-158_443-152del | ||
| ENST00000538967.5:c.724-158_724-152del | ENSP00000438215.1:n.724-158_724-152del | |
| ENST00000540600.5:n.789-158_789-152del | ||
| ENST00000542968.5:c.724-158_724-152del | ENSP00000442172.1:n.724-158_724-152del | |
| ENST00000544518.5:c.721-158_721-152del | ENSP00000441068.1:n.721-158_721-152del | |
| NM_000795.3:c.724-158_724-152del | NP_000786.1:n.724-158_724-152del | |
| NM_016574.3:c.723+802_723+808del | NP_057658.2:n.723+802_723+808del | |
| XM_017017296.2:c.724-158_724-152del | XP_016872785.1:n.724-158_724-152del | |
| NM_000795.4:c.724-158_724-152del MANE Select | NP_000786.1:n.724-158_724-152del | |
| NM_016574.4:c.723+802_723+808del | NP_057658.2:n.723+802_723+808del |