Linked Data
ClinVar Variation Id:
454742
ClinVar RCV Id:
RCV000556995
dbSNP Id:
rs1554017211
gnomAD v4:
5-13708122-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708128del , CM000667.2:g.13708128del | GRCh38 |
| NC_000005.9:g.13708237del , CM000667.1:g.13708237del | GRCh37 |
| NC_000005.8:g.13761237del | NCBI36 |
| NG_013081.1:g.241358del | |
| NG_013081.2:g.241358del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683611.1:n.671del | ||
| ENST00000265104.5:c.13338del MANE Select | ENSP00000265104.4:p.Ala4447LeufsTer16 | |
| ENST00000681290.1:c.13293del | ENSP00000505288.1:p.Ala4432LeufsTer16 | |
| ENST00000265104.4:c.13338del | ENSP00000265104.4:p.Ala4447LeufsTer16 | |
| NM_001369.2:c.13338del | NP_001360.1:p.Ala4447LeufsTer16 | |
| XM_005248262.2:c.13293del | XP_005248319.1:p.Ala4432LeufsTer16 | |
| XM_005248262.3:c.13446del | XP_005248319.2:p.Ala4483LeufsTer16 | |
| XM_017009177.1:c.13026del | XP_016864666.1:p.Ala4343LeufsTer16 | |
| XM_017009178.1:c.12351del | XP_016864667.1:p.Ala4118LeufsTer16 | |
| XM_017009179.2:c.12351del | XP_016864668.1:p.Ala4118LeufsTer16 | |
| XM_017009185.1:c.8535del | XP_016864674.1:p.Ala2846LeufsTer16 | |
| XM_017009186.1:c.8088del | XP_016864675.1:p.Ala2697LeufsTer16 | |
| XM_017009188.1:c.7425del | XP_016864677.1:p.Ala2476LeufsTer16 | |
| XM_024454388.1:c.12351del | XP_024310156.1:p.Ala4118LeufsTer16 | |
| XM_024454389.1:c.11940del | XP_024310157.1:p.Ala3981LeufsTer16 | |
| NM_001369.3:c.13338del MANE Select | NP_001360.1:p.Ala4447LeufsTer16 |