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:
rs2083549283
gnomAD v3:
20-45947857-A-AGATTATGGT
gnomAD v4:
20-45947857-A-AGATTATGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947858_45947866dup , CM000682.2:g.45947858_45947866dup | GRCh38 |
| NC_000020.10:g.44576497_44576505dup , CM000682.1:g.44576497_44576505dup | GRCh37 |
| NC_000020.9:g.44009904_44009912dup | NCBI36 |
| NG_029772.1:g.29329_29337dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372409.8:c.*103_*111dup MANE Select | ENSP00000361486.3:n.*103_*111dup | |
| ENST00000372409.7:c.*103_*111dup | ENSP00000361486.3:n.*103_*111dup | |
| ENST00000479348.2:c.1159_1167dup | ||
| NM_022104.3:c.*103_*111dup | NP_071387.1:n.*103_*111dup | |
| XM_011528980.1:c.*103_*111dup | XP_011527282.1:n.*103_*111dup | |
| XM_011528981.1:c.*103_*111dup | XP_011527283.1:n.*103_*111dup | |
| XM_011528982.1:c.*103_*111dup | XP_011527284.1:n.*103_*111dup | |
| XM_011528980.3:c.*103_*111dup | XP_011527282.1:n.*103_*111dup | |
| XM_011528981.3:c.*103_*111dup | XP_011527283.1:n.*103_*111dup | |
| XM_017028013.2:c.*103_*111dup | XP_016883502.1:n.*103_*111dup | |
| XM_017028014.2:c.*103_*111dup | XP_016883503.1:n.*103_*111dup | |
| NM_022104.4:c.*103_*111dup MANE Select | NP_071387.1:n.*103_*111dup |