Linked Data
gnomAD v4:
19-7525165-A-ACCATTATGTAAAATCCATTGTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525165_7525166insCCATTATGTAAAATCCATTGTC , CM000681.2:g.7525165_7525166insCCATTATGTAAAATCCATTGTC | GRCh38 |
| NC_000019.9:g.7590051_7590052insCCATTATGTAAAATCCATTGTC , CM000681.1:g.7590051_7590052insCCATTATGTAAAATCCATTGTC | GRCh37 |
| NC_000019.8:g.7496051_7496052insCCATTATGTAAAATCCATTGTC | NCBI36 |
| NG_015806.1:g.7556_7557insCCATTATGTAAAATCCATTGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.236_237insCCATTATGTAAAATCCATTGTC MANE Select | ENSP00000264079.5:p.Gln79HisfsTer16 | |
| ENST00000264079.10:c.236_237insCCATTATGTAAAATCCATTGTC | ENSP00000264079.5:p.Gln79HisfsTer16 | |
| ENST00000394321.9:n.316_317insCCATTATGTAAAATCCATTGTC | ||
| ENST00000596390.1:n.352_353insCCATTATGTAAAATCCATTGTC | ||
| ENST00000601003.1:c.236_237insCCATTATGTAAAATCCATTGTC | ENSP00000469074.1:p.Gln79HisfsTer16 | |
| NM_020533.2:c.236_237insCCATTATGTAAAATCCATTGTC | NP_065394.1:p.Gln79HisfsTer16 | |
| NM_020533.3:c.236_237insCCATTATGTAAAATCCATTGTC MANE Select | NP_065394.1:p.Gln79HisfsTer16 |