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:
370688
ClinVar RCV Id:
RCV000409897
dbSNP Id:
rs1057516688
gnomAD v4:
18-23899430-AGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23899431_23899432del , CM000680.2:g.23899431_23899432del | GRCh38 |
| NC_000018.9:g.21479395_21479396del , CM000680.1:g.21479395_21479396del | GRCh37 |
| NC_000018.8:g.19733393_19733394del | NCBI36 |
| NG_007853.2:g.214834_214835del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.1153_1154del MANE Plus Clinical | ENSP00000269217.5:p.Ala385Ter | |
| ENST00000313654.14:c.5980_5981del MANE Select | ENSP00000324532.8:p.Ala1994Ter | |
| ENST00000649721.1:c.2872_2873del | ENSP00000497885.1:p.Ala958Ter | |
| ENST00000269217.10:c.1153_1154del | ENSP00000269217.5:p.Ala385Ter | |
| ENST00000313654.13:c.5980_5981del | ENSP00000324532.8:p.Ala1994Ter | |
| ENST00000399516.7:c.5836+366_5836+367del | ENSP00000382432.2:n.5836+366_5836+367del | |
| ENST00000586709.1:n.368_369del | ||
| ENST00000586751.5:c.758_759del | ||
| ENST00000587184.5:c.1009+366_1009+367del | ENSP00000466557.1:n.1009+366_1009+367del | |
| ENST00000588770.5:n.558_559del | ||
| NM_000227.4:c.1153_1154del | NP_000218.3:p.Ala385Ter | |
| NM_001127717.2:c.5836+366_5836+367del | NP_001121189.2:n.5836+366_5836+367del | |
| NM_001127718.2:c.1009+366_1009+367del | NP_001121190.2:n.1009+366_1009+367del | |
| NM_198129.2:c.5980_5981del | NP_937762.2:p.Ala1994Ter | |
| XM_011525978.1:c.6007_6008del | XP_011524280.1:p.Ala2003Ter | |
| XM_011525979.1:c.5998_5999del | XP_011524281.1:p.Ala2000Ter | |
| XM_011525980.1:c.5989_5990del | XP_011524282.1:p.Ala1997Ter | |
| XM_011525981.1:c.5875_5876del | XP_011524283.1:p.Ala1959Ter | |
| XM_011525982.1:c.6007_6008del | XP_011524284.1:p.Ala2003Ter | |
| XM_011525978.2:c.6007_6008del | XP_011524280.1:p.Ala2003Ter | |
| XM_011525979.2:c.5998_5999del | XP_011524281.1:p.Ala2000Ter | |
| XM_011525980.2:c.5989_5990del | XP_011524282.1:p.Ala1997Ter | |
| XM_011525981.2:c.5875_5876del | XP_011524283.1:p.Ala1959Ter | |
| XM_011525982.2:c.6007_6008del | XP_011524284.1:p.Ala2003Ter | |
| XM_017025743.1:c.3859_3860del | XP_016881232.1:p.Ala1287Ter | |
| XM_017025744.1:c.1549_1550del | XP_016881233.1:p.Ala517Ter | |
| XR_001753199.1:n.6248_6249del | ||
| NM_000227.5:c.1153_1154del | NP_000218.3:p.Ala385Ter | |
| NM_001127717.3:c.5836+366_5836+367del | NP_001121189.2:n.5836+366_5836+367del | |
| NM_001127718.3:c.1009+366_1009+367del | NP_001121190.2:n.1009+366_1009+367del | |
| NM_198129.3:c.5980_5981del | NP_937762.2:p.Ala1994Ter | |
| NM_000227.6:c.1153_1154del MANE Plus Clinical | NP_000218.3:p.Ala385Ter | |
| NM_001127717.4:c.5836+366_5836+367del | NP_001121189.2:n.5836+366_5836+367del | |
| NM_001127718.4:c.1009+366_1009+367del | NP_001121190.2:n.1009+366_1009+367del | |
| NM_198129.4:c.5980_5981del MANE Select | NP_937762.2:p.Ala1994Ter |