Linked Data
ClinVar Variation Id:
1324750
ClinVar RCV Id:
RCV001782470
dbSNP Id:
rs1212701617
gnomAD v4:
5-7885709-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7885713del , CM000667.2:g.7885713del | GRCh38 |
| NC_000005.9:g.7885826del , CM000667.1:g.7885826del | GRCh37 |
| NC_000005.8:g.7938826del | NCBI36 |
| NG_008856.1:g.21610del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.916del MANE Select | ENSP00000402510.2:p.Ser306ProfsTer10 | |
| ENST00000264668.6:c.997del | ENSP00000264668.2:p.Ser333ProfsTer10 | |
| ENST00000440940.6:c.916del | ENSP00000402510.2:p.Ser306ProfsTer10 | |
| ENST00000508101.5:n.156del | ||
| ENST00000510525.5:c.941del | ||
| ENST00000511461.5:c.829del | ||
| ENST00000513439.5:c.*623del | ENSP00000426710.1:n.*623del | |
| NM_002454.2:c.916del | NP_002445.2:p.Ser306ProfsTer10 | |
| NM_024010.2:c.997del | NP_076915.2:p.Ser333ProfsTer10 | |
| XM_006714474.2:c.997del | XP_006714537.1:p.Ser333ProfsTer10 | |
| XM_011514043.1:c.997del | XP_011512345.1:p.Ser333ProfsTer10 | |
| XM_011514044.1:c.916del | XP_011512346.1:p.Ser306ProfsTer10 | |
| XM_011514045.1:c.1137del | XP_011512347.1:p.Pro380LeufsTer13 | |
| XR_241702.1:n.1019del | ||
| XR_241703.1:n.1012del | ||
| XR_925614.1:n.1019del | ||
| XR_925615.1:n.1019del | ||
| NM_001364440.1:c.916del | NP_001351369.1:p.Ser306ProfsTer10 | |
| NM_001364441.1:c.916del | NP_001351370.1:p.Ser306ProfsTer10 | |
| NM_001364442.1:c.916del | NP_001351371.1:p.Ser306ProfsTer10 | |
| NM_024010.3:c.916del | NP_076915.3:p.Ser306ProfsTer10 | |
| NR_134480.1:n.1039del | ||
| NR_134481.1:n.1053del | ||
| NR_134482.1:n.899del | ||
| NR_157168.1:n.969del | ||
| NR_157169.1:n.829del | ||
| NR_157170.1:n.995del | ||
| NR_157171.1:n.829del | ||
| NR_157172.1:n.855del | ||
| NR_157173.1:n.983del | ||
| NR_157174.1:n.855del | ||
| NR_157175.1:n.1009del | ||
| NR_157176.1:n.1149del | ||
| NR_157177.1:n.1004del | ||
| NR_157178.1:n.1009del | ||
| XM_024446063.1:c.961del | XP_024301831.1:p.Ser321ProfsTer10 | |
| XM_024446064.1:c.916del | XP_024301832.1:p.Ser306ProfsTer10 | |
| XR_001742071.1:n.1019del | ||
| XR_001742072.1:n.1019del | ||
| XR_001742074.1:n.1019del | ||
| XR_001742075.1:n.1019del | ||
| XR_001742076.1:n.1159del | ||
| XR_001742077.1:n.1159del | ||
| NM_001364440.2:c.916del | NP_001351369.1:p.Ser306ProfsTer10 | |
| NM_001364441.2:c.916del | NP_001351370.1:p.Ser306ProfsTer10 | |
| NM_001364442.2:c.916del | NP_001351371.1:p.Ser306ProfsTer10 | |
| NM_002454.3:c.916del MANE Select | NP_002445.2:p.Ser306ProfsTer10 | |
| NM_024010.4:c.916del | NP_076915.3:p.Ser306ProfsTer10 | |
| NR_134480.2:n.995del | ||
| NR_134481.2:n.1009del | ||
| NR_134482.2:n.855del | ||
| NR_157168.2:n.969del | ||
| NR_157169.2:n.829del | ||
| NR_157170.2:n.995del | ||
| NR_157171.2:n.829del | ||
| NR_157172.2:n.855del | ||
| NR_157173.2:n.983del | ||
| NR_157174.2:n.855del | ||
| NR_157175.2:n.1009del | ||
| NR_157176.2:n.1149del | ||
| NR_157177.2:n.1004del | ||
| NR_157178.2:n.1009del |