Linked Data
ClinVar Variation Id:
126623
ClinVar RCV Id:
RCV000114496
RCV000114497
RCV000116073
RCV000212770
RCV001781441
RCV001270993
RCV001193414
RCV001543616
RCV002490763
dbSNP Id:
rs180177143
ExAC:
16:23649206 GACAA / G
gnomAD v2:
16-23649206-GACAA-G
gnomAD v3:
16-23637885-GACAA-G
gnomAD v4:
16-23637885-GACAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23637890_23637893del , CM000678.2:g.23637890_23637893del | GRCh38 |
| NC_000016.9:g.23649211_23649214del , CM000678.1:g.23649211_23649214del | GRCh37 |
| NC_000016.8:g.23556712_23556715del | NCBI36 |
| NG_007406.1:g.8469_8472del , LRG_308:g.8469_8472del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.178_181del | ENSP00000460666.3:p.Gln62ArgfsTer7 | |
| ENST00000565038.2:c.172_175del | ENSP00000459882.2:p.Gln60ArgfsTer7 | |
| ENST00000566069.6:c.172_175del | ENSP00000459237.2:p.Gln60ArgfsTer7 | |
| ENST00000697377.2:c.178_181del | ENSP00000513286.2:p.Gln62ArgfsTer7 | |
| ENST00000697379.2:c.178_181del | ENSP00000513287.2:p.Gln62ArgfsTer7 | |
| ENST00000561514.2:c.-714_-711del | ENSP00000460666.2:n.-714_-711del | |
| ENST00000697374.1:c.-714_-711del | ENSP00000513284.1:n.-714_-711del | |
| ENST00000697375.1:n.1519_1522del | ||
| ENST00000697376.1:c.-714_-711del | ENSP00000513285.1:n.-714_-711del | |
| ENST00000697377.1:c.-714_-711del | ENSP00000513286.1:n.-714_-711del | |
| ENST00000697378.1:n.692_695del | ||
| ENST00000697379.1:c.-714_-711del | ENSP00000513287.1:n.-714_-711del | |
| ENST00000697382.1:c.-714_-711del | ENSP00000513288.1:n.-714_-711del | |
| ENST00000697383.1:c.48+3221_48+3224del | ENSP00000513289.1:n.48+3221_48+3224del | |
| ENST00000697384.1:n.326_329del | ||
| ENST00000261584.9:c.172_175del MANE Select | ENSP00000261584.4:p.Gln60ArgfsTer7 | |
| ENST00000261584.8:c.172_175del | ENSP00000261584.4:p.Gln60ArgfsTer7 | |
| ENST00000561514.1:c.178_181del | ENSP00000460666.1:p.Gln62ArgfsTer7 | |
| ENST00000565038.1:c.47_50del | ||
| ENST00000567003.1:n.450_453del | ||
| ENST00000568219.5:c.-714_-711del | ENSP00000454703.2:n.-714_-711del | |
| NM_024675.3:c.172_175del , LRG_308t1:c.172_175del | NP_078951.2:p.Gln60ArgfsTer7 | |
| XM_011545946.1:c.178_181del | XP_011544248.1:p.Gln62ArgfsTer7 | |
| XM_011545947.1:c.178_181del | XP_011544249.1:p.Gln62ArgfsTer7 | |
| XM_011545948.1:c.-714_-711del | XP_011544250.1:n.-714_-711del | |
| XR_950851.1:n.968_971del | ||
| XM_011545946.2:c.178_181del | XP_011544248.1:p.Gln62ArgfsTer7 | |
| XM_011545947.2:c.178_181del | XP_011544249.1:p.Gln62ArgfsTer7 | |
| XM_011545948.2:c.-714_-711del | XP_011544250.1:n.-714_-711del | |
| XM_017023671.1:c.178_181del | XP_016879160.1:p.Gln62ArgfsTer7 | |
| XM_017023672.2:c.172_175del | XP_016879161.1:p.Gln60ArgfsTer7 | |
| XM_017023673.2:c.172_175del | XP_016879162.1:p.Gln60ArgfsTer7 | |
| NM_024675.4:c.172_175del MANE Select | NP_078951.2:p.Gln60ArgfsTer7 |