Linked Data
ClinVar Variation Id:
426541
dbSNP Id:
rs1085307675
gnomAD v2:
15-52446159-CTCTTA-C
gnomAD v4:
15-52153962-CTCTTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.52153967_52153971del , CM000677.2:g.52153967_52153971del | GRCh38 |
| NC_000015.9:g.52446164_52446168del , CM000677.1:g.52446164_52446168del | GRCh37 |
| NC_000015.8:g.50233456_50233460del | NCBI36 |
| NG_052868.1:g.42402_42406del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261837.12:c.348_352del MANE Select | ENSP00000261837.7:p.Asp116GlufsTer? | |
| ENST00000261837.11:c.348_352del | ENSP00000261837.7:p.Asp116GlufsTer? | |
| ENST00000358784.11:c.222_226del | ENSP00000351635.7:p.Asp74GlufsTer? | |
| ENST00000396335.8:c.222_226del | ENSP00000379626.4:p.Asp74GlufsTer? | |
| ENST00000560075.1:n.379_383del | ||
| ENST00000560116.1:c.222_226del | ENSP00000453176.1:p.Asp74GlufsTer? | |
| ENST00000561313.5:c.222_226del | ENSP00000454185.1:p.Asp74GlufsTer? | |
| NM_006578.3:c.222_226del | NP_006569.1:p.Asp74GlufsTer? | |
| NM_016194.3:c.348_352del | NP_057278.2:p.Asp116GlufsTer? | |
| XM_011521162.1:c.222_226del | XP_011519464.1:p.Asp74GlufsTer? | |
| XM_011521163.1:c.66_70del | XP_011519465.1:p.Asp22GlufsTer? | |
| XM_011521162.3:c.222_226del | XP_011519464.1:p.Asp74GlufsTer? | |
| XM_011521163.3:c.66_70del | XP_011519465.1:p.Asp22GlufsTer? | |
| XR_001751060.2:n.300_304del | ||
| NM_006578.4:c.222_226del | NP_006569.1:p.Asp74GlufsTer? | |
| NM_016194.4:c.348_352del MANE Select | NP_057278.2:p.Asp116GlufsTer? | |
| NM_001379343.1:c.66_70del | NP_001366272.1:p.Asp22GlufsTer? |