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_000006.12:g.135290274C= , CM000668.2:g.135290274C= | GRCh38 |
| NC_000006.11:g.135611412C= , CM000668.1:g.135611412C= | GRCh37 |
| NC_000006.10:g.135653105C= | NCBI36 |
| NG_008643.1:g.212492G= | |
| NG_008643.2:g.212492G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265602.11:c.3588+149G= MANE Select | ENSP00000265602.6:n.3588+149G= | |
| ENST00000498558.6:n.629+149G= | ||
| ENST00000527681.2:c.1257+149G= | ||
| ENST00000679434.1:c.5204+149G= | ENSP00000505592.1:n.5204+149G= | |
| ENST00000679450.1:c.3327+149G= | ENSP00000506494.1:n.3327+149G= | |
| ENST00000679490.1:n.2963+149G= | ||
| ENST00000679502.1:n.2361-4627G= | ||
| ENST00000679589.1:c.*3616+149G= | ENSP00000506644.1:n.*3616+149G= | |
| ENST00000679668.1:c.5120+149G= | ENSP00000505364.1:n.5120+149G= | |
| ENST00000679672.1:c.*1563+149G= | ENSP00000505697.1:n.*1563+149G= | |
| ENST00000679711.1:c.1882+149G= | ||
| ENST00000679742.1:c.4896-4627G= | ENSP00000504890.1:n.4896-4627G= | |
| ENST00000679890.1:n.2079+149G= | ||
| ENST00000679925.1:c.3486-4627G= | ENSP00000505502.1:n.3486-4627G= | |
| ENST00000679943.1:c.3649+149G= | ENSP00000505663.1:n.3649+149G= | |
| ENST00000680071.1:n.4361+149G= | ||
| ENST00000680119.1:c.3813+149G= | ENSP00000506403.1:n.3813+149G= | |
| ENST00000680328.1:n.697+149G= | ||
| ENST00000680337.1:c.944-4627G= | ||
| ENST00000680561.1:n.6229-4627G= | ||
| ENST00000680826.1:c.3773+149G= | ENSP00000505224.1:n.3773+149G= | |
| ENST00000680840.1:c.3816+149G= | ENSP00000505809.1:n.3816+149G= | |
| ENST00000680965.1:c.*1042+149G= | ENSP00000505398.1:n.*1042+149G= | |
| ENST00000681022.1:c.3588+149G= | ENSP00000505121.1:n.3588+149G= | |
| ENST00000681057.1:n.2744-4627G= | ||
| ENST00000681196.1:n.4259-4627G= | ||
| ENST00000681301.1:c.3435+149G= | ENSP00000505093.1:n.3435+149G= | |
| ENST00000681331.1:n.1317+149G= | ||
| ENST00000681332.1:n.4105+149G= | ||
| ENST00000681340.1:c.3588+149G= | ENSP00000505666.1:n.3588+149G= | |
| ENST00000681365.1:c.3588+149G= | ENSP00000506604.1:n.3588+149G= | |
| ENST00000681488.1:c.3457+149G= | ENSP00000505884.1:n.3457+149G= | |
| ENST00000681522.1:c.3588+149G= | ENSP00000506005.1:n.3588+149G= | |
| ENST00000681556.1:n.3722+149G= | ||
| ENST00000681718.1:c.*2075+149G= | ENSP00000505266.1:n.*2075+149G= | |
| ENST00000681754.1:n.4276+149G= | ||
| ENST00000681828.1:c.5144+149G= | ENSP00000505608.1:n.5144+149G= | |
| ENST00000681841.1:c.3588+149G= | ENSP00000504965.1:n.3588+149G= | |
| ENST00000681860.1:c.3404+149G= | ENSP00000506250.1:n.3404+149G= | |
| ENST00000265602.10:c.3588+149G= | ENSP00000265602.6:n.3588+149G= | |
| ENST00000367799.6:c.1985-4627G= | ||
| ENST00000367800.8:c.3588+149G= | ENSP00000356774.4:n.3588+149G= | |
| ENST00000457866.6:c.3588+149G= | ENSP00000388650.2:n.3588+149G= | |
| ENST00000475846.6:c.2018+149G= | ||
| ENST00000487135.1:n.155-4627G= | ||
| ENST00000498558.5:n.437+149G= | ||
| ENST00000527681.1:c.197+149G= | ||
| NM_001134830.1:c.3588+149G= | NP_001128302.1:n.3588+149G= | |
| NM_001134831.1:c.3588+149G= | NP_001128303.1:n.3588+149G= | |
| NM_017651.4:c.3588+149G= | NP_060121.3:n.3588+149G= | |
| XM_011535910.1:c.3588+149G= | XP_011534212.1:n.3588+149G= | |
| XM_011535911.1:c.3588+149G= | XP_011534213.1:n.3588+149G= | |
| XM_011535915.1:c.3486-4627G= | XP_011534217.1:n.3486-4627G= | |
| XR_942488.1:n.5430+149G= | ||
| XR_942490.1:n.5328-4627G= | ||
| XR_942493.1:n.5291+149G= | ||
| XR_942494.1:n.5128+149G= | ||
| NM_001350503.1:c.3588+149G= | NP_001337432.1:n.3588+149G= | |
| NM_001350504.1:c.3486-4627G= | NP_001337433.1:n.3486-4627G= | |
| XM_011535910.3:c.3588+149G= | XP_011534212.1:n.3588+149G= | |
| XM_011535911.3:c.3588+149G= | XP_011534213.1:n.3588+149G= | |
| XM_017010981.2:c.3534+149G= | XP_016866470.1:n.3534+149G= | |
| XM_024446479.1:c.3534+149G= | XP_024302247.1:n.3534+149G= | |
| XR_001743479.2:n.5527+149G= | ||
| XR_001743480.2:n.4355+149G= | ||
| XR_001743481.2:n.4320+149G= | ||
| XR_001743482.2:n.4223+149G= | ||
| XR_001743483.2:n.5425-4627G= | ||
| XR_001743484.2:n.5388+149G= | ||
| XR_001743485.2:n.4084+149G= | ||
| XR_001743486.2:n.5286-4627G= | ||
| XR_001743487.2:n.5510+149G= | ||
| XR_001743488.1:n.5752+149G= | ||
| XR_001743489.2:n.5225+149G= | ||
| XR_001743490.2:n.4206+149G= | ||
| XR_002956286.1:n.3859+149G= | ||
| XR_002956287.1:n.3757-4627G= | ||
| NM_001134831.2:c.3588+149G= MANE Select | NP_001128303.1:n.3588+149G= | |
| NM_001134830.2:c.3588+149G= | NP_001128302.1:n.3588+149G= | |
| NM_001350503.2:c.3588+149G= | NP_001337432.1:n.3588+149G= | |
| NM_001350504.2:c.3486-4627G= | NP_001337433.1:n.3486-4627G= | |
| NM_017651.5:c.3588+149G= | NP_060121.3:n.3588+149G= |