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:
187476
ClinVar RCV Id:
RCV000167209
RCV000205261
RCV000484507
RCV001174684
RCV001781519
RCV003335170
RCV003965216
dbSNP Id:
rs775537066
ExAC:
17:59853848 C / CA
gnomAD v2:
17-59853848-C-CA
gnomAD v3:
17-61776487-C-CA
gnomAD v4:
17-61776487-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61776490dup , CM000679.2:g.61776490dup | GRCh38 |
| NC_000017.10:g.59853851dup , CM000679.1:g.59853851dup | GRCh37 |
| NC_000017.9:g.57208633dup | NCBI36 |
| NG_007409.2:g.92072dup , LRG_300:g.92072dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000579028.2:c.1592dup | ENSP00000463827.2:n.1592dup | |
| ENST00000584322.2:c.2010dup | ENSP00000463272.2:p.Glu671Ter | |
| ENST00000682066.1:c.1503dup | ENSP00000507191.1:p.Glu502Ter | |
| ENST00000682073.1:n.750dup | ||
| ENST00000682433.1:n.1089dup | ||
| ENST00000682453.1:c.2010dup | ENSP00000506943.1:p.Glu671Ter | |
| ENST00000682477.1:c.*1436dup | ENSP00000507075.1:n.*1436dup | |
| ENST00000682589.1:n.7887dup | ||
| ENST00000682611.1:c.1669dup | ENSP00000508326.1:n.1669dup | |
| ENST00000682755.1:c.1788dup | ENSP00000507660.1:p.Glu597Ter | |
| ENST00000682989.1:c.2010dup | ENSP00000507786.1:p.Glu671Ter | |
| ENST00000683039.1:c.2010dup | ENSP00000508303.1:p.Glu671Ter | |
| ENST00000683235.1:c.2010dup | ENSP00000507646.1:p.Glu671Ter | |
| ENST00000683381.1:c.2070dup | ENSP00000508184.1:p.Glu691Ter | |
| ENST00000683535.1:n.140dup | ||
| ENST00000684471.1:n.423dup | ||
| ENST00000684584.1:c.1503dup | ENSP00000508044.1:p.Glu502Ter | |
| ENST00000684769.1:c.75dup | ENSP00000507691.1:p.Glu26Ter | |
| ENST00000259008.7:c.2010dup MANE Select | ENSP00000259008.2:p.Glu671Ter | |
| ENST00000259008.6:c.2010dup | ENSP00000259008.2:p.Glu671Ter | |
| ENST00000577598.5:c.2010dup | ENSP00000464654.1:p.Glu671Ter | |
| ENST00000579028.1:c.703dup | ||
| ENST00000583837.5:n.92dup | ||
| NM_032043.2:c.2010dup , LRG_300t1:c.2010dup | NP_114432.2:p.Glu671Ter | |
| XM_011525332.1:c.2070dup | XP_011523634.1:p.Glu691Ter | |
| XM_011525333.1:c.2070dup | XP_011523635.1:p.Glu691Ter | |
| XM_011525334.1:c.2070dup | XP_011523636.1:p.Glu691Ter | |
| XM_011525335.1:c.2010dup | XP_011523637.1:p.Glu671Ter | |
| XM_011525336.1:c.1950dup | XP_011523638.1:p.Glu651Ter | |
| XM_011525337.1:c.1869dup | XP_011523639.1:p.Glu624Ter | |
| XM_011525338.1:c.1587dup | XP_011523640.1:p.Glu530Ter | |
| XM_011525339.1:c.2070dup | XP_011523641.1:p.Glu691Ter | |
| XM_011525340.1:c.2070dup | XP_011523642.1:p.Glu691Ter | |
| XM_011525332.3:c.2070dup | XP_011523634.1:p.Glu691Ter | |
| XM_011525333.3:c.2070dup | XP_011523635.1:p.Glu691Ter | |
| XM_011525334.2:c.2070dup | XP_011523636.1:p.Glu691Ter | |
| XM_011525335.3:c.2010dup | XP_011523637.1:p.Glu671Ter | |
| XM_011525336.2:c.1950dup | XP_011523638.1:p.Glu651Ter | |
| XM_011525337.2:c.1869dup | XP_011523639.1:p.Glu624Ter | |
| XM_011525338.2:c.1587dup | XP_011523640.1:p.Glu530Ter | |
| XM_011525339.3:c.2070dup | XP_011523641.1:p.Glu691Ter | |
| XM_011525340.3:c.2070dup | XP_011523642.1:p.Glu691Ter | |
| XM_017025200.1:c.1527dup | XP_016880689.1:p.Glu510Ter | |
| XM_017025201.1:c.1527dup | XP_016880690.1:p.Glu510Ter | |
| XM_017025202.1:c.156dup | XP_016880691.1:p.Glu53Ter | |
| XM_017025203.1:c.156dup | XP_016880692.1:p.Glu53Ter | |
| NM_032043.3:c.2010dup MANE Select | NP_114432.2:p.Glu671Ter |