WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
142733
dbSNP Id:
rs587782680
ExAC:
16:23641422 TG / T
gnomAD v2:
16-23641422-TG-T
gnomAD v3:
16-23630101-TG-T
gnomAD v4:
16-23630101-TG-T
PubMed:
PMID:25794774
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23630104del , CM000678.2:g.23630104del | GRCh38 |
| NC_000016.9:g.23641425del , CM000678.1:g.23641425del | GRCh37 |
| NC_000016.8:g.23548926del | NCBI36 |
| NG_007406.1:g.16256del , LRG_308:g.16256del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.2058del | ENSP00000460666.3:p.Arg688GlyfsTer23 | |
| ENST00000565038.2:c.212-827del | ENSP00000459882.2:n.212-827del | |
| ENST00000566069.6:c.2052del | ENSP00000459237.2:p.Arg686GlyfsTer23 | |
| ENST00000697377.2:c.2058del | ENSP00000513286.2:p.Arg688GlyfsTer23 | |
| ENST00000697379.2:c.2058del | ENSP00000513287.2:p.Arg688GlyfsTer23 | |
| ENST00000561514.2:c.1167del | ENSP00000460666.2:p.Arg391GlyfsTer23 | |
| ENST00000697374.1:c.1167del | ENSP00000513284.1:p.Arg391GlyfsTer23 | |
| ENST00000697375.1:n.3399del | ||
| ENST00000697376.1:c.1167del | ENSP00000513285.1:p.Arg391GlyfsTer23 | |
| ENST00000697377.1:c.1167del | ENSP00000513286.1:p.Arg391GlyfsTer23 | |
| ENST00000697378.1:n.2572del | ||
| ENST00000697379.1:c.1167del | ENSP00000513287.1:p.Arg391GlyfsTer23 | |
| ENST00000697380.1:n.980del | ||
| ENST00000697381.1:n.747del | ||
| ENST00000697382.1:c.1167del | ENSP00000513288.1:p.Arg391GlyfsTer23 | |
| ENST00000697383.1:c.49-827del | ENSP00000513289.1:n.49-827del | |
| ENST00000697384.1:n.2206del | ||
| ENST00000261584.9:c.2052del MANE Select | ENSP00000261584.4:p.Arg686GlyfsTer23 | |
| ENST00000261584.8:c.2052del | ENSP00000261584.4:p.Arg686GlyfsTer23 | |
| ENST00000565038.1:c.87-827del | ||
| ENST00000568219.5:c.1167del | ENSP00000454703.2:p.Arg391GlyfsTer23 | |
| NM_024675.3:c.2052del , LRG_308t1:c.2052del | NP_078951.2:p.Arg686GlyfsTer23 | |
| XM_011545946.1:c.2058del | XP_011544248.1:p.Arg688GlyfsTer23 | |
| XM_011545947.1:c.2058del | XP_011544249.1:p.Arg688GlyfsTer23 | |
| XM_011545948.1:c.1167del | XP_011544250.1:p.Arg391GlyfsTer23 | |
| XR_950851.1:n.2848del | ||
| XM_011545946.2:c.2058del | XP_011544248.1:p.Arg688GlyfsTer23 | |
| XM_011545947.2:c.2058del | XP_011544249.1:p.Arg688GlyfsTer23 | |
| XM_011545948.2:c.1167del | XP_011544250.1:p.Arg391GlyfsTer23 | |
| XM_017023671.1:c.2058del | XP_016879160.1:p.Arg688GlyfsTer23 | |
| XM_017023672.2:c.2052del | XP_016879161.1:p.Arg686GlyfsTer23 | |
| XM_017023673.2:c.2052del | XP_016879162.1:p.Arg686GlyfsTer23 | |
| NM_024675.4:c.2052del MANE Select | NP_078951.2:p.Arg686GlyfsTer23 |