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:
202168
ClinVar RCV Id:
RCV000184014
dbSNP Id:
rs794729196
PubMed:
PMID:21646330
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193644008del , CM000665.2:g.193644008del | GRCh38 |
| NC_000003.11:g.193361797del , CM000665.1:g.193361797del | GRCh37 |
| NC_000003.10:g.194844491del | NCBI36 |
| NG_011605.1:g.55865del , LRG_337:g.55865del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361510.8:c.1511del MANE Select | ENSP00000355324.2:p.Thr504LysfsTer18 | |
| ENST00000361828.7:c.1346del | ENSP00000354429.3:p.Thr449LysfsTer18 | |
| ENST00000361908.8:c.1457del | ENSP00000354681.3:p.Thr486LysfsTer18 | |
| ENST00000392436.7:c.1346del | ENSP00000376231.3:p.Thr449LysfsTer18 | |
| ENST00000392437.6:c.1400del | ENSP00000376232.2:p.Thr467LysfsTer18 | |
| ENST00000642289.1:c.1285del | ||
| ENST00000642445.1:c.1346del | ENSP00000495535.1:p.Thr449LysfsTer18 | |
| ENST00000642593.1:c.1346del | ENSP00000494273.1:p.Thr449LysfsTer18 | |
| ENST00000643329.1:c.1028del | ENSP00000493673.1:p.Thr343LysfsTer18 | |
| ENST00000643737.1:c.*1427del | ENSP00000494210.1:n.*1427del | |
| ENST00000644595.1:c.1346del | ENSP00000494121.1:p.Thr449LysfsTer18 | |
| ENST00000644629.1:c.1006del | ||
| ENST00000644841.1:c.974del | ENSP00000493988.1:p.Thr325LysfsTer18 | |
| ENST00000644959.1:c.1315del | ||
| ENST00000645553.1:c.1361del | ENSP00000494725.1:p.Thr454LysfsTer18 | |
| ENST00000646085.1:c.*824del | ENSP00000494509.1:n.*824del | |
| ENST00000646277.1:c.1534del | ENSP00000495289.1:p.Gln512ArgfsTer? | |
| ENST00000646544.1:c.334del | ||
| ENST00000646699.1:c.1285del | ||
| ENST00000646793.1:c.1238del | ENSP00000494512.1:p.Thr413LysfsTer18 | |
| ENST00000361150.6:c.1349del | ENSP00000354781.2:p.Thr450LysfsTer18 | |
| ENST00000361510.6:c.1511del | ENSP00000355324.2:p.Thr504LysfsTer18 | |
| ENST00000361715.6:c.1403del | ENSP00000355311.2:p.Thr468LysfsTer18 | |
| ENST00000361828.6:c.1400del | ENSP00000354429.2:p.Thr467LysfsTer18 | |
| ENST00000361908.7:c.1457del | ENSP00000354681.3:p.Thr486LysfsTer18 | |
| ENST00000392438.7:c.1346del | ENSP00000376233.3:p.Thr449LysfsTer18 | |
| ENST00000475899.1:n.542del | ||
| NM_015560.2:c.1346del , LRG_337t1:c.1346del | NP_056375.2:p.Thr449LysfsTer18 | |
| NM_130831.2:c.1238del | NP_570844.1:p.Thr413LysfsTer18 | |
| NM_130832.2:c.1292del | NP_570845.1:p.Thr431LysfsTer18 | |
| NM_130833.2:c.1349del | NP_570846.1:p.Thr450LysfsTer18 | |
| NM_130834.2:c.1400del | NP_570847.2:p.Thr467LysfsTer18 | |
| NM_130835.2:c.1403del | NP_570848.1:p.Thr468LysfsTer18 | |
| NM_130836.2:c.1457del | NP_570849.2:p.Thr486LysfsTer18 | |
| NM_130837.2:c.1511del , LRG_337t2:c.1511del | NP_570850.2:p.Thr504LysfsTer18 | |
| XM_011512863.1:c.1511del | XP_011511165.1:p.Thr504LysfsTer18 | |
| XM_011512864.1:c.1457del | XP_011511166.1:p.Thr486LysfsTer18 | |
| XM_011512865.1:c.1400del | XP_011511167.1:p.Thr467LysfsTer18 | |
| XM_011512866.1:c.1349del | XP_011511168.1:p.Thr450LysfsTer18 | |
| XM_011512867.1:c.1346del | XP_011511169.1:p.Thr449LysfsTer18 | |
| XM_011512868.1:c.1238del | XP_011511170.1:p.Thr413LysfsTer18 | |
| XM_011512869.1:c.1511del | XP_011511171.1:p.Thr504LysfsTer18 | |
| NM_001354663.1:c.977del | NP_001341592.1:p.Thr326LysfsTer18 | |
| NM_001354664.1:c.974del | NP_001341593.1:p.Thr325LysfsTer18 | |
| XR_001740158.2:n.1740del | ||
| XR_001740159.2:n.1575del | ||
| NM_001354663.2:c.977del | NP_001341592.1:p.Thr326LysfsTer18 | |
| NM_001354664.2:c.974del | NP_001341593.1:p.Thr325LysfsTer18 | |
| NM_130831.3:c.1238del | NP_570844.1:p.Thr413LysfsTer18 | |
| NM_130832.3:c.1292del | NP_570845.1:p.Thr431LysfsTer18 | |
| NM_130834.3:c.1400del | NP_570847.2:p.Thr467LysfsTer18 | |
| NM_130836.3:c.1457del | NP_570849.2:p.Thr486LysfsTer18 | |
| NM_015560.3:c.1346del | NP_056375.2:p.Thr449LysfsTer18 | |
| NM_130833.3:c.1349del | NP_570846.1:p.Thr450LysfsTer18 | |
| NM_130835.3:c.1403del | NP_570848.1:p.Thr468LysfsTer18 | |
| NM_130837.3:c.1511del MANE Select | NP_570850.2:p.Thr504LysfsTer18 |