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:
14284
ClinVar RCV Id:
RCV000015354
dbSNP Id:
rs797044445
PubMed:
PMID:9683607
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236894532dup , CM000663.2:g.236894532dup | GRCh38 |
| NC_000001.10:g.237057832dup , CM000663.1:g.237057832dup | GRCh37 |
| NC_000001.9:g.235124455dup | NCBI36 |
| NG_008959.1:g.104252dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366577.10:c.3380dup MANE Select | ENSP00000355536.5:p.Ala1128GlyfsTer16 | |
| ENST00000470570.2:n.3310dup | ||
| ENST00000535889.6:c.3227dup | ENSP00000441845.1:p.Ala1077GlyfsTer16 | |
| ENST00000650888.1:c.*2422dup | ENSP00000498393.1:n.*2422dup | |
| ENST00000651455.1:c.*2124dup | ENSP00000498963.1:n.*2124dup | |
| ENST00000674797.2:c.3032dup | ENSP00000502299.2:p.Ala1012GlyfsTer16 | |
| ENST00000679569.1:n.6507dup | ||
| ENST00000679842.1:c.3191dup | ENSP00000506109.1:p.Ala1065GlyfsTer16 | |
| ENST00000680454.1:n.6637dup | ||
| ENST00000681102.1:c.3200dup | ENSP00000505600.1:p.Ala1068GlyfsTer16 | |
| ENST00000681177.1:c.2942dup | ENSP00000506327.1:p.Ala982GlyfsTer16 | |
| ENST00000681937.1:n.3574dup | ||
| ENST00000366576.3:c.2042dup | ENSP00000355535.3:p.Ala682GlyfsTer16 | |
| ENST00000366577.9:c.3380dup | ENSP00000355536.5:p.Ala1128GlyfsTer16 | |
| ENST00000470570.1:n.192dup | ||
| ENST00000535889.5:c.3227dup | ENSP00000441845.1:p.Ala1077GlyfsTer16 | |
| NM_000254.2:c.3380dup | NP_000245.2:p.Ala1128GlyfsTer16 | |
| NM_001291939.1:c.3227dup | NP_001278868.1:p.Ala1077GlyfsTer16 | |
| NM_001291940.1:c.2159dup | NP_001278869.1:p.Ala721GlyfsTer16 | |
| XM_005273141.3:c.3377dup | XP_005273198.1:p.Ala1127GlyfsTer16 | |
| XM_006711769.2:c.3380dup | XP_006711832.1:p.Ala1128GlyfsTer? | |
| XM_006711770.1:c.2444dup | XP_006711833.1:p.Ala816GlyfsTer16 | |
| XM_011544193.1:c.3191dup | XP_011542495.1:p.Ala1065GlyfsTer16 | |
| XM_011544194.1:c.3548dup | XP_011542496.1:p.Ala1184GlyfsTer16 | |
| XM_005273141.5:c.3377dup | XP_005273198.1:p.Ala1127GlyfsTer16 | |
| XM_006711770.3:c.2444dup | XP_006711833.1:p.Ala816GlyfsTer16 | |
| XM_011544194.3:c.3548dup | XP_011542496.1:p.Ala1184GlyfsTer16 | |
| XM_017001329.2:c.3395dup | XP_016856818.1:p.Ala1133GlyfsTer16 | |
| XM_017001330.2:c.3359dup | XP_016856819.1:p.Ala1121GlyfsTer16 | |
| NM_001291940.2:c.2159dup | NP_001278869.1:p.Ala721GlyfsTer16 | |
| NM_000254.3:c.3380dup MANE Select | NP_000245.2:p.Ala1128GlyfsTer16 |