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
dbSNP Id:
rs1558464047
gnomAD v3:
2-26460088-G-GAGGAGCAGCAGC
gnomAD v4:
2-26460088-G-GAGGAGCAGCAGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26460099_26460110dup , CM000664.2:g.26460099_26460110dup | GRCh38 |
| NC_000002.11:g.26682967_26682978dup , CM000664.1:g.26682967_26682978dup | GRCh37 |
| NC_000002.10:g.26536471_26536482dup | NCBI36 |
| NG_009937.1:g.103599_103610dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.5919_5930dup MANE Select | ENSP00000272371.2:p.Leu1977_Leu1978insLeu... | |
| ENST00000339598.8:c.3512+547_3512+558dup MANE Plus Clinical | ENSP00000344521.3:n.3512+547_3512+558dup | |
| ENST00000402415.8:c.3678_3689dup | ENSP00000383906.4:p.Leu1230_Leu1231insLeu... | |
| ENST00000272371.6:c.5919_5930dup | ENSP00000272371.2:p.Leu1977_Leu1978insLeu... | |
| ENST00000338581.10:c.3618_3629dup | ENSP00000345137.6:p.Leu1210_Leu1211insLeu... | |
| ENST00000339598.7:c.3512+547_3512+558dup | ENSP00000344521.3:n.3512+547_3512+558dup | |
| ENST00000402415.7:c.3849_3860dup | ENSP00000383906.3:p.Leu1287_Leu1288insLeu... | |
| ENST00000403946.7:c.5813+547_5813+558dup | ENSP00000385255.3:n.5813+547_5813+558dup | |
| NM_001287489.1:c.5813+547_5813+558dup | NP_001274418.1:n.5813+547_5813+558dup | |
| NM_004802.3:c.3618_3629dup | NP_004793.2:p.Leu1210_Leu1211insLeuLeuLeu... | |
| NM_194248.2:c.5919_5930dup | NP_919224.1:p.Leu1977_Leu1978insLeuLeuLeu... | |
| NM_194322.2:c.3849_3860dup | NP_919303.1:p.Leu1287_Leu1288insLeuLeuLeu... | |
| NM_194323.2:c.3512+547_3512+558dup | NP_919304.1:n.3512+547_3512+558dup | |
| XM_005264644.2:c.5798+547_5798+558dup | XP_005264701.1:n.5798+547_5798+558dup | |
| XM_011533185.1:c.5858+547_5858+558dup | XP_011531487.1:n.5858+547_5858+558dup | |
| XM_017005338.1:c.5859_5870dup | XP_016860827.1:p.Leu1957_Leu1958insLeuLeu... | |
| NM_001287489.2:c.5813+547_5813+558dup | NP_001274418.1:n.5813+547_5813+558dup | |
| NM_004802.4:c.3618_3629dup | NP_004793.2:p.Leu1210_Leu1211insLeuLeuLeu... | |
| NM_194248.3:c.5919_5930dup MANE Select | NP_919224.1:p.Leu1977_Leu1978insLeuLeuLeu... | |
| NM_194322.3:c.3849_3860dup | NP_919303.1:p.Leu1287_Leu1288insLeuLeuLeu... | |
| NM_194323.3:c.3512+547_3512+558dup MANE Plus Clinical | NP_919304.1:n.3512+547_3512+558dup |