Linked Data
ClinVar Variation Id:
1003587
ClinVar RCV Id:
RCV001300161
dbSNP Id:
rs1301923654
gnomAD v2:
16-78142326-CGAG-C
gnomAD v3:
16-78108429-CGAG-C
gnomAD v4:
16-78108429-CGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.78108433_78108435del , CM000678.2:g.78108433_78108435del | GRCh38 |
| NC_000016.9:g.78142330_78142332del , CM000678.1:g.78142330_78142332del | GRCh37 |
| NC_000016.8:g.76699831_76699833del | NCBI36 |
| NG_011698.1:g.13780_13782del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000627394.3:c.118_120del | ENSP00000485925.2:p.Glu40del | |
| ENST00000682609.1:n.445_447del | ||
| ENST00000683286.1:n.445_447del | ||
| ENST00000683929.1:c.118_120del | ENSP00000507689.1:p.Glu40del | |
| ENST00000684070.1:n.437-1345_437-1343del | ||
| ENST00000684381.1:n.445_447del | ||
| ENST00000684452.1:n.445_447del | ||
| ENST00000684632.1:n.497_499del | ||
| ENST00000566780.6:c.118_120del MANE Select | ENSP00000457230.1:p.Glu40del | |
| ENST00000355860.7:c.118_120del | ENSP00000348119.3:p.Glu40del | |
| ENST00000402655.6:c.118_120del | ENSP00000384238.2:p.Glu40del | |
| ENST00000406884.6:c.118_120del | ENSP00000384495.2:p.Glu40del | |
| ENST00000408984.7:c.118_120del | ENSP00000386161.3:p.Glu40del | |
| ENST00000539474.6:c.118_120del | ENSP00000445210.2:p.Glu40del | |
| ENST00000561846.5:n.162_164del | ||
| ENST00000562214.5:n.241_243del | ||
| ENST00000563358.5:n.225_227del | ||
| ENST00000565562.5:n.163_165del | ||
| ENST00000566662.5:c.108-1345_108-1343del | ENSP00000454331.1:n.108-1345_108-1343del | |
| ENST00000566780.5:c.118_120del | ENSP00000457230.1:p.Glu40del | |
| ENST00000569332.5:c.108-1345_108-1343del | ENSP00000454788.1:n.108-1345_108-1343del | |
| ENST00000627394.2:c.108-1345_108-1343del | ENSP00000485925.1:n.108-1345_108-1343del | |
| NM_001291997.1:c.-167-1345_-167-1343del | NP_001278926.1:n.-167-1345_-167-1343del | |
| NM_016373.3:c.118_120del | NP_057457.1:p.Glu40del | |
| NM_130791.3:c.118_120del | NP_570607.1:p.Glu40del | |
| NR_120436.1:n.598_600del | ||
| XM_006721195.2:c.118_120del | XP_006721258.1:p.Glu40del | |
| XM_011523100.1:c.118_120del | XP_011521402.1:p.Glu40del | |
| XM_011523101.1:c.118_120del | XP_011521403.1:p.Glu40del | |
| XM_011523102.1:c.118_120del | XP_011521404.1:p.Glu40del | |
| XM_011523103.1:c.118_120del | XP_011521405.1:p.Glu40del | |
| XM_011523104.1:c.118_120del | XP_011521406.1:p.Glu40del | |
| XM_011523105.1:c.118_120del | XP_011521407.1:p.Glu40del | |
| XM_011523101.3:c.118_120del | XP_011521403.1:p.Glu40del | |
| XM_011523103.3:c.118_120del | XP_011521405.1:p.Glu40del | |
| XM_011523104.3:c.118_120del | XP_011521406.1:p.Glu40del | |
| XM_011523105.3:c.118_120del | XP_011521407.1:p.Glu40del | |
| XM_017023278.2:c.118_120del | XP_016878767.1:p.Glu40del | |
| NM_016373.4:c.118_120del MANE Select | NP_057457.1:p.Glu40del | |
| NM_001291997.2:c.-167-1345_-167-1343del | NP_001278926.1:n.-167-1345_-167-1343del | |
| NM_130791.4:c.118_120del | NP_570607.1:p.Glu40del | |
| NR_120436.2:n.357_359del | ||
| NM_130791.5:c.118_120del | NP_570607.1:p.Glu40del | |
| NR_120436.3:n.357_359del |