Linked Data
ClinVar Variation Id:
1817
dbSNP Id:
rs199422202
gnomAD v2:
13-25487145-AG-A
gnomAD v4:
13-24913007-AG-A
MyVariant Identifiers:
chr13:g.25487147del (hg19)
chr13:g.25487146del (hg19)
chr13:g.24913009del (hg38)
chr13:g.24913008del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.24913009del , CM000675.2:g.24913009del | GRCh38 |
| NC_000013.10:g.25487147del , CM000675.1:g.25487147del | GRCh37 |
| NC_000013.9:g.24385147del | NCBI36 |
| NG_009165.2:g.14940del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381884.9:c.18del MANE Select | ENSP00000371308.4:p.Ser7LeufsTer4 | |
| ENST00000545981.6:c.18del | ENSP00000441090.2:p.Ser7LeufsTer4 | |
| ENST00000381884.8:c.18del | ENSP00000371308.4:p.Ser7LeufsTer4 | |
| ENST00000545981.5:c.18del | ENSP00000441090.2:p.Ser7LeufsTer4 | |
| ENST00000616936.4:c.18del | ENSP00000477511.1:p.Ser7LeufsTer4 | |
| NM_018451.4:c.18del | NP_060921.3:p.Ser7LeufsTer4 | |
| NR_047594.1:n.213del | ||
| NR_047595.1:n.213del | ||
| XM_011535149.1:c.18del | XP_011533451.1:p.Ser7LeufsTer4 | |
| XM_011535150.1:c.18del | XP_011533452.1:p.Ser7LeufsTer4 | |
| XM_011535151.1:c.18del | XP_011533453.1:p.Ser7LeufsTer4 | |
| XR_941627.1:n.213del | ||
| XR_941628.1:n.213del | ||
| XM_011535149.2:c.18del | XP_011533451.1:p.Ser7LeufsTer4 | |
| XM_011535150.2:c.18del | XP_011533452.1:p.Ser7LeufsTer4 | |
| XM_017020673.1:c.18del | XP_016876162.1:p.Ser7LeufsTer4 | |
| NM_018451.5:c.18del MANE Select | NP_060921.3:p.Ser7LeufsTer4 | |
| NR_047594.2:n.185del | ||
| NR_047595.2:n.185del |