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:
162159
ClinVar RCV Id:
RCV000149565
dbSNP Id:
rs724159954
PubMed:
PMID:25920557
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37490354dup , CM000683.2:g.37490354dup | GRCh38 |
| NC_000021.8:g.38862656dup , CM000683.1:g.38862656dup | GRCh37 |
| NC_000021.7:g.37784526dup | NCBI36 |
| NG_009366.1:g.127798dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338785.8:c.844dup | ENSP00000342690.3:p.Ser282LysfsTer6 | |
| ENST00000398960.7:c.844dup | ENSP00000381932.2:p.Ser282LysfsTer6 | |
| ENST00000642309.1:c.730dup | ENSP00000495596.1:p.Ser244LysfsTer6 | |
| ENST00000643624.1:c.817dup | ENSP00000493627.1:p.Ser273LysfsTer6 | |
| ENST00000643808.1:n.647dup | ||
| ENST00000643854.1:c.730dup | ENSP00000493653.1:p.Ser244LysfsTer6 | |
| ENST00000644367.1:n.208dup | ||
| ENST00000644942.1:c.844dup | ENSP00000494544.1:p.Ser282LysfsTer6 | |
| ENST00000645424.1:c.844dup | ENSP00000494897.1:p.Ser282LysfsTer6 | |
| ENST00000645774.1:c.865dup | ENSP00000494536.1:p.Ser289LysfsTer6 | |
| ENST00000646224.1:n.259dup | ||
| ENST00000646523.1:c.844dup | ENSP00000495632.1:p.Ser282LysfsTer6 | |
| ENST00000646548.1:c.817dup | ENSP00000495908.1:p.Ser273LysfsTer6 | |
| ENST00000647188.2:c.817dup MANE Select | ENSP00000494572.1:p.Ser273LysfsTer6 | |
| ENST00000647425.1:c.817dup | ENSP00000496748.1:p.Ser273LysfsTer6 | |
| ENST00000647504.1:c.730dup | ENSP00000495571.1:p.Ser244LysfsTer6 | |
| ENST00000338785.7:c.844dup | ENSP00000342690.3:p.Ser282LysfsTer6 | |
| ENST00000339659.8:c.817dup | ENSP00000340373.3:p.Ser273LysfsTer6 | |
| ENST00000398956.2:c.844dup | ENSP00000381929.2:p.Ser282LysfsTer6 | |
| ENST00000398960.6:c.844dup | ENSP00000381932.2:p.Ser282LysfsTer6 | |
| NM_001396.3:c.844dup | NP_001387.2:p.Ser282LysfsTer6 | |
| NM_101395.2:c.844dup | NP_567824.1:p.Ser282LysfsTer6 | |
| NM_130436.2:c.817dup | NP_569120.1:p.Ser273LysfsTer6 | |
| NM_130438.2:c.844dup | NP_569122.1:p.Ser282LysfsTer6 | |
| XM_005260931.3:c.757dup | XP_005260988.1:p.Ser253LysfsTer6 | |
| XM_005260933.3:c.160dup | XP_005260990.1:p.Ser54LysfsTer6 | |
| XM_006723976.2:c.844dup | XP_006724039.1:p.Ser282LysfsTer6 | |
| XM_006723977.2:c.844dup | XP_006724040.1:p.Ser282LysfsTer6 | |
| XM_006723978.2:c.844dup | XP_006724041.1:p.Ser282LysfsTer6 | |
| XM_006723979.2:c.817dup | XP_006724042.1:p.Ser273LysfsTer6 | |
| XM_011529482.1:c.865dup | XP_011527784.1:p.Ser289LysfsTer6 | |
| XM_011529483.1:c.844dup | XP_011527785.1:p.Ser282LysfsTer6 | |
| XM_011529484.1:c.838dup | XP_011527786.1:p.Ser280LysfsTer6 | |
| XM_011529485.1:c.730dup | XP_011527787.1:p.Ser244LysfsTer6 | |
| NM_001347721.1:c.817dup | NP_001334650.1:p.Ser273LysfsTer6 | |
| NM_001347722.1:c.817dup | NP_001334651.1:p.Ser273LysfsTer6 | |
| NM_001347723.1:c.730dup | NP_001334652.1:p.Ser244LysfsTer6 | |
| NM_001396.4:c.844dup | NP_001387.2:p.Ser282LysfsTer6 | |
| XM_005260933.5:c.160dup | XP_005260990.1:p.Ser54LysfsTer6 | |
| XM_006723976.3:c.844dup | XP_006724039.1:p.Ser282LysfsTer6 | |
| XM_006723977.3:c.844dup | XP_006724040.1:p.Ser282LysfsTer6 | |
| XM_006723978.3:c.844dup | XP_006724041.1:p.Ser282LysfsTer6 | |
| XM_011529483.2:c.844dup | XP_011527785.1:p.Ser282LysfsTer6 | |
| XM_017028284.1:c.817dup | XP_016883773.1:p.Ser273LysfsTer6 | |
| XM_017028286.2:c.757dup | XP_016883775.1:p.Ser253LysfsTer6 | |
| XM_024452057.1:c.730dup | XP_024307825.1:p.Ser244LysfsTer6 | |
| NM_001347721.2:c.817dup MANE Select | NP_001334650.1:p.Ser273LysfsTer6 | |
| NM_001347722.2:c.817dup | NP_001334651.1:p.Ser273LysfsTer6 | |
| NM_001347723.2:c.730dup | NP_001334652.1:p.Ser244LysfsTer6 | |
| NM_001396.5:c.844dup | NP_001387.2:p.Ser282LysfsTer6 |