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.45977062_45977063delinsTG , CM000679.2:g.45977062_45977063delinsTG | GRCh38 |
| NC_000017.10:g.44054428_44054429delinsTG , CM000679.1:g.44054428_44054429delinsTG | GRCh37 |
| NC_000017.9:g.41410264_41410265delinsTG | NCBI36 |
| NG_007398.1:g.87641_87642delinsTG | |
| NG_007398.2:g.87600_87601delinsTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420682.7:c.221-1313_221-1312delinsTG | ENSP00000413056.2:n.221-1313_221-1312deli... | |
| ENST00000703922.1:c.221-1313_221-1312delinsTG | ENSP00000515557.1:n.221-1313_221-1312deli... | |
| ENST00000703923.1:c.134-1313_134-1312delinsTG | ENSP00000515558.1:n.134-1313_134-1312deli... | |
| ENST00000703924.1:c.221-1313_221-1312delinsTG | ENSP00000515559.1:n.221-1313_221-1312deli... | |
| ENST00000703975.1:n.265-1313_265-1312delinsTG | ||
| ENST00000703976.1:n.333-1313_333-1312delinsTG | ||
| ENST00000703977.1:n.175-1313_175-1312delinsTG | ||
| ENST00000703978.1:c.308-1313_308-1312delinsTG | ENSP00000515600.1:n.308-1313_308-1312deli... | |
| ENST00000703979.1:n.237+5117_237+5118delinsTG | ||
| ENST00000262410.10:c.221-1313_221-1312delinsTG MANE Select | ENSP00000262410.6:n.221-1313_221-1312deli... | |
| ENST00000344290.10:c.221-1313_221-1312delinsTG | ENSP00000340820.6:n.221-1313_221-1312deli... | |
| ENST00000351559.10:c.308-1313_308-1312delinsTG | ENSP00000303214.7:n.308-1313_308-1312deli... | |
| ENST00000535772.6:c.221-1313_221-1312delinsTG | ENSP00000443028.2:n.221-1313_221-1312deli... | |
| ENST00000680542.1:c.221-1313_221-1312delinsTG | ENSP00000505258.1:n.221-1313_221-1312deli... | |
| ENST00000680674.1:c.134-1313_134-1312delinsTG | ENSP00000505478.1:n.134-1313_134-1312deli... | |
| ENST00000262410.9:c.308-1313_308-1312delinsTG | ENSP00000262410.5:n.308-1313_308-1312deli... | |
| ENST00000334239.12:c.134-1313_134-1312delinsTG | ENSP00000334886.8:n.134-1313_134-1312deli... | |
| ENST00000340799.9:c.221-1313_221-1312delinsTG | ENSP00000340438.5:n.221-1313_221-1312deli... | |
| ENST00000344290.9:c.308-1313_308-1312delinsTG | ENSP00000340820.5:n.308-1313_308-1312deli... | |
| ENST00000351559.9:c.308-1313_308-1312delinsTG | ENSP00000303214.7:n.308-1313_308-1312deli... | |
| ENST00000415613.6:c.308-1313_308-1312delinsTG | ENSP00000410838.2:n.308-1313_308-1312deli... | |
| ENST00000420682.6:c.221-1313_221-1312delinsTG | ENSP00000413056.2:n.221-1313_221-1312deli... | |
| ENST00000431008.7:c.308-1313_308-1312delinsTG | ENSP00000389250.3:n.308-1313_308-1312deli... | |
| ENST00000446361.7:c.134-1313_134-1312delinsTG | ENSP00000408975.3:n.134-1313_134-1312deli... | |
| ENST00000535772.5:c.308-1313_308-1312delinsTG | ENSP00000443028.1:n.308-1313_308-1312deli... | |
| ENST00000570299.5:n.262-1313_262-1312delinsTG | ||
| ENST00000571311.5:c.*176-1313_*176-1312delinsTG | ENSP00000460048.1:n.*176-1313_*176-1312de... | |
| ENST00000571987.5:c.308-1313_308-1312delinsTG | ENSP00000458742.1:n.308-1313_308-1312deli... | |
| ENST00000572440.1:n.1571_1572delinsTG | ||
| ENST00000574436.5:c.308-1313_308-1312delinsTG | ENSP00000460965.1:n.308-1313_308-1312deli... | |
| ENST00000576518.1:n.4280_4281delinsTG | ||
| NM_001123066.3:c.308-1313_308-1312delinsTG | NP_001116538.2:n.308-1313_308-1312delinsT... | |
| NM_001123067.3:c.221-1313_221-1312delinsTG | NP_001116539.1:n.221-1313_221-1312delinsT... | |
| NM_001203251.1:c.221-1313_221-1312delinsTG | NP_001190180.1:n.221-1313_221-1312delinsT... | |
| NM_001203252.1:c.308-1313_308-1312delinsTG | NP_001190181.1:n.308-1313_308-1312delinsT... | |
| NM_005910.5:c.308-1313_308-1312delinsTG | NP_005901.2:n.308-1313_308-1312delinsTG | |
| NM_016834.4:c.134-1313_134-1312delinsTG | NP_058518.1:n.134-1313_134-1312delinsTG | |
| NM_016835.4:c.308-1313_308-1312delinsTG | NP_058519.3:n.308-1313_308-1312delinsTG | |
| NM_016841.4:c.134-1313_134-1312delinsTG | NP_058525.1:n.134-1313_134-1312delinsTG | |
| XM_005257362.3:c.308-1313_308-1312delinsTG | XP_005257419.1:n.308-1313_308-1312delinsT... | |
| XM_005257364.3:c.221-1313_221-1312delinsTG | XP_005257421.1:n.221-1313_221-1312delinsT... | |
| XM_005257365.3:c.308-1313_308-1312delinsTG | XP_005257422.1:n.308-1313_308-1312delinsT... | |
| XM_005257366.2:c.134-1313_134-1312delinsTG | XP_005257423.1:n.134-1313_134-1312delinsT... | |
| XM_005257367.3:c.308-1313_308-1312delinsTG | XP_005257424.1:n.308-1313_308-1312delinsT... | |
| XM_005257368.3:c.308-1313_308-1312delinsTG | XP_005257425.1:n.308-1313_308-1312delinsT... | |
| XM_005257369.3:c.308-1313_308-1312delinsTG | XP_005257426.1:n.308-1313_308-1312delinsT... | |
| XM_005257370.3:c.221-1313_221-1312delinsTG | XP_005257427.1:n.221-1313_221-1312delinsT... | |
| XM_005257371.3:c.134-1313_134-1312delinsTG | XP_005257428.1:n.134-1313_134-1312delinsT... | |
| XM_005257362.4:c.308-1313_308-1312delinsTG | XP_005257419.1:n.308-1313_308-1312delinsT... | |
| XM_005257364.4:c.221-1313_221-1312delinsTG | XP_005257421.1:n.221-1313_221-1312delinsT... | |
| XM_005257365.4:c.308-1313_308-1312delinsTG | XP_005257422.1:n.308-1313_308-1312delinsT... | |
| XM_005257366.3:c.134-1313_134-1312delinsTG | XP_005257423.1:n.134-1313_134-1312delinsT... | |
| XM_005257367.4:c.308-1313_308-1312delinsTG | XP_005257424.1:n.308-1313_308-1312delinsT... | |
| XM_005257368.4:c.308-1313_308-1312delinsTG | XP_005257425.1:n.308-1313_308-1312delinsT... | |
| XM_005257369.4:c.308-1313_308-1312delinsTG | XP_005257426.1:n.308-1313_308-1312delinsT... | |
| XM_005257370.4:c.221-1313_221-1312delinsTG | XP_005257427.1:n.221-1313_221-1312delinsT... | |
| XM_005257371.4:c.134-1313_134-1312delinsTG | XP_005257428.1:n.134-1313_134-1312delinsT... | |
| NM_001203251.2:c.221-1313_221-1312delinsTG | NP_001190180.1:n.221-1313_221-1312delinsT... | |
| NM_001377265.1:c.221-1313_221-1312delinsTG MANE Select | NP_001364194.1:n.221-1313_221-1312delinsT... | |
| NM_001377266.1:c.221-1313_221-1312delinsTG | NP_001364195.1:n.221-1313_221-1312delinsT... | |
| NM_001377267.1:c.221-1313_221-1312delinsTG | NP_001364196.1:n.221-1313_221-1312delinsT... | |
| NM_001377268.1:c.134-1313_134-1312delinsTG | NP_001364197.1:n.134-1313_134-1312delinsT... | |
| NM_016834.5:c.134-1313_134-1312delinsTG | NP_058518.1:n.134-1313_134-1312delinsTG | |
| NM_016841.5:c.134-1313_134-1312delinsTG | NP_058525.1:n.134-1313_134-1312delinsTG | |
| NR_165166.1:n.371-1313_371-1312delinsTG | ||
| NM_001123066.4:c.308-1313_308-1312delinsTG | NP_001116538.2:n.308-1313_308-1312delinsT... | |
| NM_001123067.4:c.221-1313_221-1312delinsTG | NP_001116539.1:n.221-1313_221-1312delinsT... | |
| NM_001203252.2:c.308-1313_308-1312delinsTG | NP_001190181.1:n.308-1313_308-1312delinsT... | |
| NM_005910.6:c.308-1313_308-1312delinsTG | NP_005901.2:n.308-1313_308-1312delinsTG | |
| NM_016835.5:c.308-1313_308-1312delinsTG | NP_058519.3:n.308-1313_308-1312delinsTG |