Linked Data
gnomAD v4:
1-152304883-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304888dup , CM000663.2:g.152304888dup | GRCh38 |
| NC_000001.10:g.152277364dup , CM000663.1:g.152277364dup | GRCh37 |
| NC_000001.9:g.150543988dup | NCBI36 |
| NG_016190.1:g.25320dup , LRG_1028:g.25320dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10002dup MANE Select | ENSP00000357789.1:p.Ser3335ValfsTer4 | |
| ENST00000368799.1:c.10002dup | ENSP00000357789.1:p.Ser3335ValfsTer4 | |
| NM_002016.1:c.10002dup , LRG_1028t1:c.10002dup | NP_002007.1:p.Ser3335ValfsTer4 | |
| XM_011509329.1:c.9108+894dup | XP_011507631.1:n.9108+894dup | |
| NM_002016.2:c.10002dup MANE Select | NP_002007.1:p.Ser3335ValfsTer4 |