UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50318363_50318383delinsCTCTGGTATATTTGGATTTTT , CM000677.2:g.50318363_50318383delinsCTCTGGTATATTTGGATTTTT | GRCh38 |
| NC_000015.9:g.50610560_50610580delinsCTCTGGTATATTTGGATTTTT , CM000677.1:g.50610560_50610580delinsCTCTGGTATATTTGGATTTTT | GRCh37 |
| NC_000015.8:g.48397852_48397872delinsCTCTGGTATATTTGGATTTTT | NCBI36 |
| NG_029475.1:g.42026_42046delinsAAAAATCCAAATATACCAGAG | |
| NG_029475.2:g.42026_42046delinsAAAAATCCAAATATACCAGAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380877.8:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG MANE Select | ENSP00000370259.3:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| ENST00000220429.12:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | ENSP00000220429.8:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| ENST00000359031.8:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | ENSP00000351923.4:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| ENST00000380877.7:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | ENSP00000370259.3:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| ENST00000396464.7:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | ENSP00000379728.3:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| ENST00000429662.6:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | ENSP00000395771.2:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| ENST00000543881.5:c.-120-14250_-120-14230delinsAAAAATCCAAATATACCAGAG | ENSP00000442500.1:n.-120-14250_-120-14230delinsAAAAATCCAAATAT... | |
| ENST00000558335.5:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | ENSP00000453578.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| ENST00000558970.2:c.-255-3713_-255-3693delinsAAAAATCCAAATATACCAGAG | ENSP00000454211.1:n.-255-3713_-255-3693delinsAAAAATCCAAATATAC... | |
| ENST00000560825.5:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | ENSP00000453463.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| NM_002041.4:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | NP_002032.2:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| NM_005254.5:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | NP_005245.2:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| NM_016654.4:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | NP_057738.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| NM_016655.4:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | NP_057739.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| NM_181427.3:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | NP_852092.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| XM_005254273.3:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | XP_005254330.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| XM_005254274.3:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | XP_005254331.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| XM_011521427.1:c.-1+3019_-1+3039delinsAAAAATCCAAATATACCAGAG | XP_011519729.1:n.-1+3019_-1+3039delinsAAAAATCCAAATATACCAGAG | |
| NM_001320910.1:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | NP_001307839.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| NM_001320915.1:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | NP_001307844.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| XM_005254274.4:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | XP_005254331.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| XM_011521426.3:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | XP_011519728.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| XM_017022053.2:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | XP_016877542.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| XM_017022054.2:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | XP_016877543.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| XM_024449883.1:c.16-8585_16-8565delinsAAAAATCCAAATATACCAGAG | XP_024305651.1:n.16-8585_16-8565delinsAAAAATCCAAATATACCAGAG | |
| XM_024449884.1:c.16-8585_16-8565delinsAAAAATCCAAATATACCAGAG | XP_024305652.1:n.16-8585_16-8565delinsAAAAATCCAAATATACCAGAG | |
| XM_024449885.1:c.10-8585_10-8565delinsAAAAATCCAAATATACCAGAG | XP_024305653.1:n.10-8585_10-8565delinsAAAAATCCAAATATACCAGAG | |
| XM_024449886.1:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | XP_024305654.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| XM_024449887.1:c.16-8585_16-8565delinsAAAAATCCAAATATACCAGAG | XP_024305655.1:n.16-8585_16-8565delinsAAAAATCCAAATATACCAGAG | |
| XM_024449888.1:c.16-8585_16-8565delinsAAAAATCCAAATATACCAGAG | XP_024305656.1:n.16-8585_16-8565delinsAAAAATCCAAATATACCAGAG | |
| NM_001320910.2:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | NP_001307839.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| NM_001320915.2:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | NP_001307844.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| NM_005254.6:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | NP_005245.2:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| NM_016654.5:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG MANE Select | NP_057738.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| NM_002041.5:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | NP_002032.2:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| NM_016655.5:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | NP_057739.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | |
| NM_181427.4:c.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG | NP_852092.1:n.1-8585_1-8565delinsAAAAATCCAAATATACCAGAG |