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.135290389_135290396delinsACATAGCG , CM000668.2:g.135290389_135290396delinsACATAGCG | GRCh38 |
| NC_000006.11:g.135611527_135611534delinsACATAGCG , CM000668.1:g.135611527_135611534delinsACATAGCG | GRCh37 |
| NC_000006.10:g.135653220_135653227delinsACATAGCG | NCBI36 |
| NG_008643.1:g.212370_212377delinsCGCTATGT | |
| NG_008643.2:g.212370_212377delinsCGCTATGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265602.11:c.3588+27_3588+34delinsCGCTATGT MANE Select | ENSP00000265602.6:n.3588+27_3588+34delins... | |
| ENST00000498558.6:n.629+27_629+34delinsCGCTATGT | ||
| ENST00000527681.2:c.1257+27_1257+34delinsCGCTATGT | ||
| ENST00000679434.1:c.5204+27_5204+34delinsCGCTATGT | ENSP00000505592.1:n.5204+27_5204+34delins... | |
| ENST00000679450.1:c.3327+27_3327+34delinsCGCTATGT | ENSP00000506494.1:n.3327+27_3327+34delins... | |
| ENST00000679490.1:n.2963+27_2963+34delinsCGCTATGT | ||
| ENST00000679502.1:n.2361-4749_2361-4742delinsCGCTATGT | ||
| ENST00000679589.1:c.*3616+27_*3616+34delinsCGCTATGT | ENSP00000506644.1:n.*3616+27_*3616+34deli... | |
| ENST00000679668.1:c.5120+27_5120+34delinsCGCTATGT | ENSP00000505364.1:n.5120+27_5120+34delins... | |
| ENST00000679672.1:c.*1563+27_*1563+34delinsCGCTATGT | ENSP00000505697.1:n.*1563+27_*1563+34deli... | |
| ENST00000679711.1:c.1882+27_1882+34delinsCGCTATGT | ||
| ENST00000679742.1:c.4896-4749_4896-4742delinsCGCTATGT | ENSP00000504890.1:n.4896-4749_4896-4742de... | |
| ENST00000679890.1:n.2079+27_2079+34delinsCGCTATGT | ||
| ENST00000679925.1:c.3486-4749_3486-4742delinsCGCTATGT | ENSP00000505502.1:n.3486-4749_3486-4742de... | |
| ENST00000679943.1:c.3649+27_3649+34delinsCGCTATGT | ENSP00000505663.1:n.3649+27_3649+34delins... | |
| ENST00000680071.1:n.4361+27_4361+34delinsCGCTATGT | ||
| ENST00000680119.1:c.3813+27_3813+34delinsCGCTATGT | ENSP00000506403.1:n.3813+27_3813+34delins... | |
| ENST00000680328.1:n.697+27_697+34delinsCGCTATGT | ||
| ENST00000680337.1:c.944-4749_944-4742delinsCGCTATGT | ||
| ENST00000680561.1:n.6229-4749_6229-4742delinsCGCTATGT | ||
| ENST00000680826.1:c.3773+27_3773+34delinsCGCTATGT | ENSP00000505224.1:n.3773+27_3773+34delins... | |
| ENST00000680840.1:c.3816+27_3816+34delinsCGCTATGT | ENSP00000505809.1:n.3816+27_3816+34delins... | |
| ENST00000680965.1:c.*1042+27_*1042+34delinsCGCTATGT | ENSP00000505398.1:n.*1042+27_*1042+34deli... | |
| ENST00000681022.1:c.3588+27_3588+34delinsCGCTATGT | ENSP00000505121.1:n.3588+27_3588+34delins... | |
| ENST00000681057.1:n.2744-4749_2744-4742delinsCGCTATGT | ||
| ENST00000681196.1:n.4259-4749_4259-4742delinsCGCTATGT | ||
| ENST00000681301.1:c.3435+27_3435+34delinsCGCTATGT | ENSP00000505093.1:n.3435+27_3435+34delins... | |
| ENST00000681331.1:n.1317+27_1317+34delinsCGCTATGT | ||
| ENST00000681332.1:n.4105+27_4105+34delinsCGCTATGT | ||
| ENST00000681340.1:c.3588+27_3588+34delinsCGCTATGT | ENSP00000505666.1:n.3588+27_3588+34delins... | |
| ENST00000681365.1:c.3588+27_3588+34delinsCGCTATGT | ENSP00000506604.1:n.3588+27_3588+34delins... | |
| ENST00000681488.1:c.3457+27_3457+34delinsCGCTATGT | ENSP00000505884.1:n.3457+27_3457+34delins... | |
| ENST00000681522.1:c.3588+27_3588+34delinsCGCTATGT | ENSP00000506005.1:n.3588+27_3588+34delins... | |
| ENST00000681556.1:n.3722+27_3722+34delinsCGCTATGT | ||
| ENST00000681718.1:c.*2075+27_*2075+34delinsCGCTATGT | ENSP00000505266.1:n.*2075+27_*2075+34deli... | |
| ENST00000681754.1:n.4276+27_4276+34delinsCGCTATGT | ||
| ENST00000681828.1:c.5144+27_5144+34delinsCGCTATGT | ENSP00000505608.1:n.5144+27_5144+34delins... | |
| ENST00000681841.1:c.3588+27_3588+34delinsCGCTATGT | ENSP00000504965.1:n.3588+27_3588+34delins... | |
| ENST00000681860.1:c.3404+27_3404+34delinsCGCTATGT | ENSP00000506250.1:n.3404+27_3404+34delins... | |
| ENST00000265602.10:c.3588+27_3588+34delinsCGCTATGT | ENSP00000265602.6:n.3588+27_3588+34delins... | |
| ENST00000367799.6:c.1985-4749_1985-4742delinsCGCTATGT | ||
| ENST00000367800.8:c.3588+27_3588+34delinsCGCTATGT | ENSP00000356774.4:n.3588+27_3588+34delins... | |
| ENST00000457866.6:c.3588+27_3588+34delinsCGCTATGT | ENSP00000388650.2:n.3588+27_3588+34delins... | |
| ENST00000475846.6:c.2018+27_2018+34delinsCGCTATGT | ||
| ENST00000487135.1:n.155-4749_155-4742delinsCGCTATGT | ||
| ENST00000498558.5:n.437+27_437+34delinsCGCTATGT | ||
| ENST00000527681.1:c.197+27_197+34delinsCGCTATGT | ||
| NM_001134830.1:c.3588+27_3588+34delinsCGCTATGT | NP_001128302.1:n.3588+27_3588+34delinsCGC... | |
| NM_001134831.1:c.3588+27_3588+34delinsCGCTATGT | NP_001128303.1:n.3588+27_3588+34delinsCGC... | |
| NM_017651.4:c.3588+27_3588+34delinsCGCTATGT | NP_060121.3:n.3588+27_3588+34delinsCGCTAT... | |
| XM_011535910.1:c.3588+27_3588+34delinsCGCTATGT | XP_011534212.1:n.3588+27_3588+34delinsCGC... | |
| XM_011535911.1:c.3588+27_3588+34delinsCGCTATGT | XP_011534213.1:n.3588+27_3588+34delinsCGC... | |
| XM_011535915.1:c.3486-4749_3486-4742delinsCGCTATGT | XP_011534217.1:n.3486-4749_3486-4742delin... | |
| XR_942488.1:n.5430+27_5430+34delinsCGCTATGT | ||
| XR_942490.1:n.5328-4749_5328-4742delinsCGCTATGT | ||
| XR_942493.1:n.5291+27_5291+34delinsCGCTATGT | ||
| XR_942494.1:n.5128+27_5128+34delinsCGCTATGT | ||
| NM_001350503.1:c.3588+27_3588+34delinsCGCTATGT | NP_001337432.1:n.3588+27_3588+34delinsCGC... | |
| NM_001350504.1:c.3486-4749_3486-4742delinsCGCTATGT | NP_001337433.1:n.3486-4749_3486-4742delin... | |
| XM_011535910.3:c.3588+27_3588+34delinsCGCTATGT | XP_011534212.1:n.3588+27_3588+34delinsCGC... | |
| XM_011535911.3:c.3588+27_3588+34delinsCGCTATGT | XP_011534213.1:n.3588+27_3588+34delinsCGC... | |
| XM_017010981.2:c.3534+27_3534+34delinsCGCTATGT | XP_016866470.1:n.3534+27_3534+34delinsCGC... | |
| XM_024446479.1:c.3534+27_3534+34delinsCGCTATGT | XP_024302247.1:n.3534+27_3534+34delinsCGC... | |
| XR_001743479.2:n.5527+27_5527+34delinsCGCTATGT | ||
| XR_001743480.2:n.4355+27_4355+34delinsCGCTATGT | ||
| XR_001743481.2:n.4320+27_4320+34delinsCGCTATGT | ||
| XR_001743482.2:n.4223+27_4223+34delinsCGCTATGT | ||
| XR_001743483.2:n.5425-4749_5425-4742delinsCGCTATGT | ||
| XR_001743484.2:n.5388+27_5388+34delinsCGCTATGT | ||
| XR_001743485.2:n.4084+27_4084+34delinsCGCTATGT | ||
| XR_001743486.2:n.5286-4749_5286-4742delinsCGCTATGT | ||
| XR_001743487.2:n.5510+27_5510+34delinsCGCTATGT | ||
| XR_001743488.1:n.5752+27_5752+34delinsCGCTATGT | ||
| XR_001743489.2:n.5225+27_5225+34delinsCGCTATGT | ||
| XR_001743490.2:n.4206+27_4206+34delinsCGCTATGT | ||
| XR_002956286.1:n.3859+27_3859+34delinsCGCTATGT | ||
| XR_002956287.1:n.3757-4749_3757-4742delinsCGCTATGT | ||
| NM_001134831.2:c.3588+27_3588+34delinsCGCTATGT MANE Select | NP_001128303.1:n.3588+27_3588+34delinsCGC... | |
| NM_001134830.2:c.3588+27_3588+34delinsCGCTATGT | NP_001128302.1:n.3588+27_3588+34delinsCGC... | |
| NM_001350503.2:c.3588+27_3588+34delinsCGCTATGT | NP_001337432.1:n.3588+27_3588+34delinsCGC... | |
| NM_001350504.2:c.3486-4749_3486-4742delinsCGCTATGT | NP_001337433.1:n.3486-4749_3486-4742delin... | |
| NM_017651.5:c.3588+27_3588+34delinsCGCTATGT | NP_060121.3:n.3588+27_3588+34delinsCGCTAT... |