Linked Data
dbSNP Id:
rs754512389
ExAC:
3:87309141 ACT / A
gnomAD v2:
3-87309141-ACT-A
gnomAD v4:
3-87259991-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87259994_87259995del , CM000665.2:g.87259994_87259995del | GRCh38 |
| NC_000003.11:g.87309144_87309145del , CM000665.1:g.87309144_87309145del | GRCh37 |
| NC_000003.10:g.87391834_87391835del | NCBI36 |
| NG_008225.2:g.21595_21596del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344265.8:c.855_856del | ENSP00000342931.3:p.Arg285SerfsTer26 | |
| ENST00000350375.7:c.777_778del MANE Select | ENSP00000263781.2:p.Arg259SerfsTer26 | |
| ENST00000344265.7:c.855_856del | ENSP00000342931.3:p.Arg285SerfsTer26 | |
| ENST00000350375.6:c.777_778del | ENSP00000263781.2:p.Arg259SerfsTer26 | |
| ENST00000560656.1:c.551_552del | ENSP00000452610.1:n.551_552del | |
| ENST00000561167.5:c.552_553del | ENSP00000454072.1:p.Arg184SerfsTer26 | |
| NM_000306.3:c.777_778del | NP_000297.1:p.Arg259SerfsTer26 | |
| NM_001122757.2:c.855_856del | NP_001116229.1:p.Arg285SerfsTer26 | |
| NM_000306.4:c.777_778del MANE Select | NP_000297.1:p.Arg259SerfsTer26 | |
| NM_001122757.3:c.855_856del | NP_001116229.1:p.Arg285SerfsTer26 |