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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46014182_46014186delinsGTCTC , CM000679.2:g.46014182_46014186delinsGTCTC | GRCh38 |
| NC_000017.10:g.44091548_44091552delinsGTCTC , CM000679.1:g.44091548_44091552delinsGTCTC | GRCh37 |
| NC_000017.9:g.41447385_41447389delinsGTCTC | NCBI36 |
| NG_007398.1:g.124762_124766delinsGTCTC | |
| NG_007398.2:g.124720_124724delinsGTCTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420682.7:c.829-61_829-57delinsGTCTC | ENSP00000413056.2:n.829-61_829-57delinsGT... | |
| ENST00000703922.1:c.829-61_829-57delinsGTCTC | ENSP00000515557.1:n.829-61_829-57delinsGT... | |
| ENST00000703923.1:c.742-61_742-57delinsGTCTC | ENSP00000515558.1:n.742-61_742-57delinsGT... | |
| ENST00000703924.1:c.829-61_829-57delinsGTCTC | ENSP00000515559.1:n.829-61_829-57delinsGT... | |
| ENST00000703978.1:c.916-61_916-57delinsGTCTC | ENSP00000515600.1:n.916-61_916-57delinsGT... | |
| ENST00000703979.1:n.687-61_687-57delinsGTCTC | ||
| ENST00000703980.1:n.142-61_142-57delinsGTCTC | ||
| ENST00000703981.1:n.85-61_85-57delinsGTCTC | ||
| ENST00000262410.10:c.2092-61_2092-57delinsGTCTC MANE Select | ENSP00000262410.6:n.2092-61_2092-57delins... | |
| ENST00000344290.10:c.1801-61_1801-57delinsGTCTC | ENSP00000340820.6:n.1801-61_1801-57delins... | |
| ENST00000351559.10:c.916-61_916-57delinsGTCTC | ENSP00000303214.7:n.916-61_916-57delinsGT... | |
| ENST00000535772.6:c.736-61_736-57delinsGTCTC | ENSP00000443028.2:n.736-61_736-57delinsGT... | |
| ENST00000680542.1:c.829-61_829-57delinsGTCTC | ENSP00000505258.1:n.829-61_829-57delinsGT... | |
| ENST00000680674.1:c.742-61_742-57delinsGTCTC | ENSP00000505478.1:n.742-61_742-57delinsGT... | |
| ENST00000262410.9:c.1867-61_1867-57delinsGTCTC | ENSP00000262410.5:n.1867-61_1867-57delins... | |
| ENST00000334239.12:c.649-61_649-57delinsGTCTC | ENSP00000334886.8:n.649-61_649-57delinsGT... | |
| ENST00000340799.9:c.829-61_829-57delinsGTCTC | ENSP00000340438.5:n.829-61_829-57delinsGT... | |
| ENST00000344290.9:c.1921-61_1921-57delinsGTCTC | ENSP00000340820.5:n.1921-61_1921-57delins... | |
| ENST00000351559.9:c.916-61_916-57delinsGTCTC | ENSP00000303214.7:n.916-61_916-57delinsGT... | |
| ENST00000415613.6:c.1921-61_1921-57delinsGTCTC | ENSP00000410838.2:n.1921-61_1921-57delins... | |
| ENST00000420682.6:c.829-61_829-57delinsGTCTC | ENSP00000413056.2:n.829-61_829-57delinsGT... | |
| ENST00000431008.7:c.823-61_823-57delinsGTCTC | ENSP00000389250.3:n.823-61_823-57delinsGT... | |
| ENST00000446361.7:c.742-61_742-57delinsGTCTC | ENSP00000408975.3:n.742-61_742-57delinsGT... | |
| ENST00000535772.5:c.823-61_823-57delinsGTCTC | ENSP00000443028.1:n.823-61_823-57delinsGT... | |
| ENST00000570299.5:n.777-4436_777-4432delinsGTCTC | ||
| ENST00000571987.5:c.1867-61_1867-57delinsGTCTC | ENSP00000458742.1:n.1867-61_1867-57delins... | |
| ENST00000574436.5:c.916-61_916-57delinsGTCTC | ENSP00000460965.1:n.916-61_916-57delinsGT... | |
| ENST00000576518.1:n.6108-61_6108-57delinsGTCTC | ||
| NM_001123066.3:c.1921-61_1921-57delinsGTCTC | NP_001116538.2:n.1921-61_1921-57delinsGTC... | |
| NM_001123067.3:c.829-61_829-57delinsGTCTC | NP_001116539.1:n.829-61_829-57delinsGTCTC... | |
| NM_001203251.1:c.736-61_736-57delinsGTCTC | NP_001190180.1:n.736-61_736-57delinsGTCTC... | |
| NM_001203252.1:c.823-61_823-57delinsGTCTC | NP_001190181.1:n.823-61_823-57delinsGTCTC... | |
| NM_005910.5:c.916-61_916-57delinsGTCTC | NP_005901.2:n.916-61_916-57delinsGTCTC | |
| NM_016834.4:c.742-61_742-57delinsGTCTC | NP_058518.1:n.742-61_742-57delinsGTCTC | |
| NM_016835.4:c.1867-61_1867-57delinsGTCTC | NP_058519.3:n.1867-61_1867-57delinsGTCTC | |
| NM_016841.4:c.649-61_649-57delinsGTCTC | NP_058525.1:n.649-61_649-57delinsGTCTC | |
| XM_005257362.3:c.2179-61_2179-57delinsGTCTC | XP_005257419.1:n.2179-61_2179-57delinsGTC... | |
| XM_005257364.3:c.2092-61_2092-57delinsGTCTC | XP_005257421.1:n.2092-61_2092-57delinsGTC... | |
| XM_005257365.3:c.2086-61_2086-57delinsGTCTC | XP_005257422.1:n.2086-61_2086-57delinsGTC... | |
| XM_005257366.2:c.2005-61_2005-57delinsGTCTC | XP_005257423.1:n.2005-61_2005-57delinsGTC... | |
| XM_005257367.3:c.1981-61_1981-57delinsGTCTC | XP_005257424.1:n.1981-61_1981-57delinsGTC... | |
| XM_005257368.3:c.1888-61_1888-57delinsGTCTC | XP_005257425.1:n.1888-61_1888-57delinsGTC... | |
| XM_005257369.3:c.1114-61_1114-57delinsGTCTC | XP_005257426.1:n.1114-61_1114-57delinsGTC... | |
| XM_005257370.3:c.1027-61_1027-57delinsGTCTC | XP_005257427.1:n.1027-61_1027-57delinsGTC... | |
| XM_005257371.3:c.940-61_940-57delinsGTCTC | XP_005257428.1:n.940-61_940-57delinsGTCTC... | |
| XM_005257362.4:c.2179-61_2179-57delinsGTCTC | XP_005257419.1:n.2179-61_2179-57delinsGTC... | |
| XM_005257364.4:c.2092-61_2092-57delinsGTCTC | XP_005257421.1:n.2092-61_2092-57delinsGTC... | |
| XM_005257365.4:c.2086-61_2086-57delinsGTCTC | XP_005257422.1:n.2086-61_2086-57delinsGTC... | |
| XM_005257366.3:c.2005-61_2005-57delinsGTCTC | XP_005257423.1:n.2005-61_2005-57delinsGTC... | |
| XM_005257367.4:c.1981-61_1981-57delinsGTCTC | XP_005257424.1:n.1981-61_1981-57delinsGTC... | |
| XM_005257368.4:c.1888-61_1888-57delinsGTCTC | XP_005257425.1:n.1888-61_1888-57delinsGTC... | |
| XM_005257369.4:c.1114-61_1114-57delinsGTCTC | XP_005257426.1:n.1114-61_1114-57delinsGTC... | |
| XM_005257370.4:c.1027-61_1027-57delinsGTCTC | XP_005257427.1:n.1027-61_1027-57delinsGTC... | |
| XM_005257371.4:c.940-61_940-57delinsGTCTC | XP_005257428.1:n.940-61_940-57delinsGTCTC... | |
| NM_001203251.2:c.736-61_736-57delinsGTCTC | NP_001190180.1:n.736-61_736-57delinsGTCTC... | |
| NM_001377265.1:c.2092-61_2092-57delinsGTCTC MANE Select | NP_001364194.1:n.2092-61_2092-57delinsGTC... | |
| NM_001377266.1:c.1801-61_1801-57delinsGTCTC | NP_001364195.1:n.1801-61_1801-57delinsGTC... | |
| NM_001377267.1:c.736-61_736-57delinsGTCTC | NP_001364196.1:n.736-61_736-57delinsGTCTC... | |
| NM_001377268.1:c.649-61_649-57delinsGTCTC | NP_001364197.1:n.649-61_649-57delinsGTCTC... | |
| NM_016834.5:c.742-61_742-57delinsGTCTC | NP_058518.1:n.742-61_742-57delinsGTCTC | |
| NM_016841.5:c.649-61_649-57delinsGTCTC | NP_058525.1:n.649-61_649-57delinsGTCTC | |
| NR_165166.1:n.747-61_747-57delinsGTCTC | ||
| NM_001123066.4:c.1921-61_1921-57delinsGTCTC | NP_001116538.2:n.1921-61_1921-57delinsGTC... | |
| NM_001123067.4:c.829-61_829-57delinsGTCTC | NP_001116539.1:n.829-61_829-57delinsGTCTC... | |
| NM_001203252.2:c.823-61_823-57delinsGTCTC | NP_001190181.1:n.823-61_823-57delinsGTCTC... | |
| NM_005910.6:c.916-61_916-57delinsGTCTC | NP_005901.2:n.916-61_916-57delinsGTCTC | |
| NM_016835.5:c.1867-61_1867-57delinsGTCTC | NP_058519.3:n.1867-61_1867-57delinsGTCTC |