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_000006.12:g.133452348_133452349insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC , CM000668.2:g.133452348_133452349insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | GRCh38 |
| NC_000006.11:g.133773486_133773487insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC , CM000668.1:g.133773486_133773487insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | GRCh37 |
| NC_000006.10:g.133815179_133815180insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | NCBI36 |
| NG_011596.1:g.215992_215993insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | |
| NG_011596.2:g.215992_215993insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525849.7:c.209-4208_209-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000433219.1:n.209-4208_209-4207insC... | |
| ENST00000706301.1:c.208+5594_208+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000516341.1:n.208+5594_208+5595insC... | |
| ENST00000355167.8:c.208+5594_208+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000347294.4:n.208+5594_208+5595insC... | |
| ENST00000683664.1:n.244-4208_244-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ||
| ENST00000684773.1:c.-200-4208_-200-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000506812.1:n.-200-4208_-200-4207in... | |
| ENST00000355286.12:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC MANE Select | ENSP00000347434.7:n.277+4169_277+4170insC... | |
| ENST00000431403.3:c.209-4208_209-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000404558.3:n.209-4208_209-4207insC... | |
| ENST00000525614.2:n.545+5594_545+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ||
| ENST00000525849.6:c.209-4208_209-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000433219.1:n.209-4208_209-4207insC... | |
| ENST00000355167.7:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000347294.3:n.277+4169_277+4170insC... | |
| ENST00000355286.10:c.209-4208_209-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000347434.6:n.209-4208_209-4207insC... | |
| ENST00000367895.9:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000356870.5:n.277+4169_277+4170insC... | |
| ENST00000421413.6:n.380-4208_380-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ||
| ENST00000430974.6:c.208+5594_208+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000388670.2:n.208+5594_208+5595insC... | |
| ENST00000431403.2:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000404558.2:n.277+4169_277+4170insC... | |
| ENST00000452339.6:c.208+5594_208+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000395916.2:n.208+5594_208+5595insC... | |
| ENST00000525614.1:n.545+5594_545+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ||
| ENST00000525849.5:c.209-4208_209-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000433219.1:n.209-4208_209-4207insC... | |
| ENST00000531861.5:n.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ||
| ENST00000531901.5:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ENSP00000432770.1:n.277+4169_277+4170insC... | |
| NM_001301012.1:c.208+5594_208+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | NP_001287941.1:n.208+5594_208+5595insCTTG... | |
| NM_001301013.1:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | NP_001287942.1:n.277+4169_277+4170insCTTG... | |
| NM_004100.4:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | NP_004091.3:n.277+4169_277+4170insCTTGTTT... | |
| NM_172103.3:c.209-4208_209-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | NP_742101.2:n.209-4208_209-4207insCTTGTTT... | |
| NM_172105.3:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | NP_742103.1:n.277+4169_277+4170insCTTGTTT... | |
| XM_005266851.3:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_005266908.1:n.277+4169_277+4170insCTTG... | |
| XM_005266852.3:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_005266909.1:n.277+4169_277+4170insCTTG... | |
| XM_005266853.3:c.209-4208_209-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_005266910.1:n.209-4208_209-4207insCTTG... | |
| XM_011535540.1:c.209-4208_209-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_011533842.1:n.209-4208_209-4207insCTTG... | |
| XM_011535541.1:c.209-4223_209-4222insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_011533843.1:n.209-4223_209-4222insCTTG... | |
| XM_011535542.1:c.208+5594_208+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_011533844.1:n.208+5594_208+5595insCTTG... | |
| XM_005266851.5:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_005266908.1:n.277+4169_277+4170insCTTG... | |
| XM_005266853.5:c.209-4208_209-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_005266910.1:n.209-4208_209-4207insCTTG... | |
| XM_017010368.2:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_016865857.1:n.277+4169_277+4170insCTTG... | |
| XM_017010369.2:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_016865858.1:n.277+4169_277+4170insCTTG... | |
| XM_017010370.2:c.209-4208_209-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_016865859.1:n.209-4208_209-4207insCTTG... | |
| XM_017010371.2:c.209-4223_209-4222insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_016865860.1:n.209-4223_209-4222insCTTG... | |
| XM_017010372.2:c.208+5594_208+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_016865861.1:n.208+5594_208+5595insCTTG... | |
| XM_017010373.2:c.208+5594_208+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_016865862.1:n.208+5594_208+5595insCTTG... | |
| XM_017010374.2:c.208+5594_208+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_016865863.1:n.208+5594_208+5595insCTTG... | |
| XM_017010375.1:c.208+5594_208+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | XP_016865864.1:n.208+5594_208+5595insCTTG... | |
| XR_001743219.2:n.439+4169_439+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ||
| XR_001743220.2:n.439+4169_439+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | ||
| NM_004100.5:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC MANE Select | NP_004091.3:n.277+4169_277+4170insCTTGTTT... | |
| NM_001370458.1:c.209-4208_209-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | NP_001357387.1:n.209-4208_209-4207insCTTG... | |
| NM_001370459.1:c.208+5594_208+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | NP_001357388.1:n.208+5594_208+5595insCTTG... | |
| NM_001301012.2:c.208+5594_208+5595insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | NP_001287941.1:n.208+5594_208+5595insCTTG... | |
| NM_001301013.2:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | NP_001287942.1:n.277+4169_277+4170insCTTG... | |
| NM_172103.4:c.209-4208_209-4207insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | NP_742101.2:n.209-4208_209-4207insCTTGTTT... | |
| NM_172105.4:c.277+4169_277+4170insCTTGTTTGGATCAATATATTCATTCAAAAACCTATGATTACC | NP_742103.1:n.277+4169_277+4170insCTTGTTT... |