Linked Data
ClinVar Variation Id:
96767
ClinVar RCV Id:
RCV000082888
RCV000160245
RCV000164468
RCV000205603
RCV001091525
RCV003492433
RCV004542799
dbSNP Id:
rs11571587
ExAC:
13:32893305 AAAC / A
gnomAD v2:
13-32893305-AAAC-A
gnomAD v3:
13-32319168-AAAC-A
gnomAD v4:
13-32319168-AAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32319174_32319176del , CM000675.2:g.32319174_32319176del | GRCh38 |
| NC_000013.10:g.32893311_32893313del , CM000675.1:g.32893311_32893313del | GRCh37 |
| NC_000013.9:g.31791311_31791313del | NCBI36 |
| NG_012772.3:g.8695_8697del , LRG_293:g.8695_8697del | |
| NG_017006.2:g.1193_1195del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.165_167del | ENSP00000434898.2:p.Asn56del | |
| ENST00000528762.2:c.165_167del | ENSP00000433168.2:p.Asn56del | |
| ENST00000530893.7:c.-205_-203del | ENSP00000499438.2:n.-205_-203del | |
| ENST00000665585.2:c.165_167del | ENSP00000499570.2:p.Asn56del | |
| ENST00000666593.2:c.165_167del | ENSP00000499256.2:p.Asn56del | |
| ENST00000700202.2:c.165_167del | ENSP00000514856.2:p.Asn56del | |
| ENST00000700200.1:n.191+2647_191+2649del | ||
| ENST00000700201.1:c.165_167del | ENSP00000514855.1:p.Asn56del | |
| ENST00000380152.8:c.165_167del MANE Select | ENSP00000369497.3:p.Asn56del | |
| ENST00000544455.6:c.165_167del | ENSP00000439902.1:p.Asn56del | |
| ENST00000614259.2:c.165_167del | ENSP00000506251.1:p.Asn56del | |
| ENST00000680887.1:c.165_167del | ENSP00000505508.1:p.Asn56del | |
| ENST00000380152.7:c.165_167del | ENSP00000369497.3:p.Asn56del | |
| ENST00000530893.6:n.363_365del | ||
| ENST00000544455.5:c.165_167del | ENSP00000439902.1:p.Asn56del | |
| ENST00000614259.1:n.165_167del | ||
| NM_000059.3:c.165_167del , LRG_293t1:c.165_167del | NP_000050.2:p.Asn56del | |
| XM_011535203.1:c.165_167del | XP_011533505.1:p.Asn56del | |
| XM_011535204.1:c.165_167del | XP_011533506.1:p.Asn56del | |
| XM_011535205.1:c.165_167del | XP_011533507.1:p.Asn56del | |
| NM_000059.4:c.165_167del MANE Select | NP_000050.3:p.Asn56del |