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.
Linked Data
gnomAD v4:
2-50495962-T-TCTTTACAGTGTGGAGGTTGCTGGTGTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.50495964_50495990dup , CM000664.2:g.50495964_50495990dup | GRCh38 |
| NC_000002.11:g.50723102_50723128dup , CM000664.1:g.50723102_50723128dup | GRCh37 |
| NC_000002.10:g.50576606_50576632dup | NCBI36 |
| NG_011878.1:g.541548_541574dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401669.7:c.2986_3012dup MANE Select | ENSP00000385017.2:p.Lys1004_Ile1005insAspThrSerAsnLeuHisThrVa... | |
| ENST00000462791.2:n.962_988dup | ||
| ENST00000636298.1:n.1885_1911dup | ||
| ENST00000637889.1:n.153_179dup | ||
| ENST00000331040.9:c.2140_2166dup | ENSP00000489573.1:p.Lys722_Ile723insAspThrSerAsnLeuHisThrValL... | |
| ENST00000401669.6:c.2986_3012dup | ENSP00000385017.2:p.Lys1004_Ile1005insAspThrSerAsnLeuHisThrVa... | |
| ENST00000402717.6:c.2131_2157dup | ENSP00000385434.4:p.Lys719_Ile720insAspThrSerAsnLeuHisThrValL... | |
| ENST00000404971.5:c.3106_3132dup | ENSP00000385142.1:p.Lys1044_Ile1045insAspThrSerAsnLeuHisThrVa... | |
| ENST00000405472.7:c.2950_2976dup | ENSP00000434015.2:p.Lys992_Ile993insAspThrSerAsnLeuHisThrValL... | |
| ENST00000406316.6:c.2986_3012dup | ENSP00000384311.2:p.Lys1004_Ile1005insAspThrSerAsnLeuHisThrVa... | |
| ENST00000406859.7:c.2176_2202dup | ENSP00000385681.4:p.Lys734_Ile735insAspThrSerAsnLeuHisThrValL... | |
| ENST00000625320.2:c.88_114dup | ENSP00000486253.1:p.Lys38_Ile39insAspThrSerAsnLeuHisThrValLys... | |
| ENST00000625672.2:c.2962_2988dup | ENSP00000485887.1:p.Lys996_Ile997insAspThrSerAsnLeuHisThrValL... | |
| ENST00000630543.2:c.2962_2988dup | ENSP00000486879.1:p.Lys996_Ile997insAspThrSerAsnLeuHisThrValL... | |
| NM_001135659.1:c.3106_3132dup | NP_001129131.1:p.Lys1044_Ile1045insAspThrSerAsnLeuHisThrValLy... | |
| NM_004801.4:c.2986_3012dup | NP_004792.1:p.Lys1004_Ile1005insAspThrSerAsnLeuHisThrValLys | |
| XM_005264642.2:c.3007_3033dup | XP_005264699.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_005264643.2:c.2962_2988dup | XP_005264700.1:p.Lys996_Ile997insAspThrSerAsnLeuHisThrValLys | |
| XM_006712137.2:c.3007_3033dup | XP_006712200.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_006712140.2:c.3007_3033dup | XP_006712203.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_006712141.2:c.3007_3033dup | XP_006712204.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533167.1:c.3007_3033dup | XP_011531469.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533168.1:c.3004_3030dup | XP_011531470.1:p.Lys1010_Ile1011insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533169.1:c.2995_3021dup | XP_011531471.1:p.Lys1007_Ile1008insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533170.1:c.2989_3015dup | XP_011531472.1:p.Lys1005_Ile1006insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533171.1:c.2986_3012dup | XP_011531473.1:p.Lys1004_Ile1005insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533172.1:c.2980_3006dup | XP_011531474.1:p.Lys1002_Ile1003insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533173.1:c.2977_3003dup | XP_011531475.1:p.Lys1001_Ile1002insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533174.1:c.2962_2988dup | XP_011531476.1:p.Lys996_Ile997insAspThrSerAsnLeuHisThrValLys | |
| XM_011533175.1:c.2950_2976dup | XP_011531477.1:p.Lys992_Ile993insAspThrSerAsnLeuHisThrValLys | |
| XM_011533176.1:c.2947_2973dup | XP_011531478.1:p.Lys991_Ile992insAspThrSerAsnLeuHisThrValLys | |
| XM_011533177.1:c.3007_3033dup | XP_011531479.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533178.1:c.2917_2943dup | XP_011531480.1:p.Lys981_Ile982insAspThrSerAsnLeuHisThrValLys | |
| XM_011533179.1:c.2962_2988dup | XP_011531481.1:p.Lys996_Ile997insAspThrSerAsnLeuHisThrValLys | |
| XM_011533180.1:c.3007_3033dup | XP_011531482.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533181.1:c.2212_2238dup | XP_011531483.1:p.Lys746_Ile747insAspThrSerAsnLeuHisThrValLys | |
| XM_011533182.1:c.2167_2193dup | XP_011531484.1:p.Lys731_Ile732insAspThrSerAsnLeuHisThrValLys | |
| XM_011533183.1:c.2140_2166dup | XP_011531485.1:p.Lys722_Ile723insAspThrSerAsnLeuHisThrValLys | |
| XM_011533184.1:c.2047_2073dup | XP_011531486.1:p.Lys691_Ile692insAspThrSerAsnLeuHisThrValLys | |
| NM_001135659.2:c.3106_3132dup | NP_001129131.1:p.Lys1044_Ile1045insAspThrSerAsnLeuHisThrValLy... | |
| NM_001330077.1:c.2962_2988dup | NP_001317006.1:p.Lys996_Ile997insAspThrSerAsnLeuHisThrValLys | |
| NM_001330078.1:c.2986_3012dup | NP_001317007.1:p.Lys1004_Ile1005insAspThrSerAsnLeuHisThrValLy... | |
| NM_001330082.1:c.2962_2988dup | NP_001317011.1:p.Lys996_Ile997insAspThrSerAsnLeuHisThrValLys | |
| NM_001330083.1:c.2920_2946dup | NP_001317012.1:p.Lys982_Ile983insAspThrSerAsnLeuHisThrValLys | |
| NM_001330084.1:c.2920_2946dup | NP_001317013.1:p.Lys982_Ile983insAspThrSerAsnLeuHisThrValLys | |
| NM_001330085.1:c.2959_2985dup | NP_001317014.1:p.Lys995_Ile996insAspThrSerAsnLeuHisThrValLys | |
| NM_001330086.1:c.2986_3012dup | NP_001317015.1:p.Lys1004_Ile1005insAspThrSerAsnLeuHisThrValLy... | |
| NM_001330087.1:c.2875_2901dup | NP_001317016.1:p.Lys967_Ile968insAspThrSerAsnLeuHisThrValLys | |
| NM_001330088.1:c.2905_2931dup | NP_001317017.1:p.Lys977_Ile978insAspThrSerAsnLeuHisThrValLys | |
| NM_001330093.1:c.2983_3009dup | NP_001317022.1:p.Lys1003_Ile1004insAspThrSerAsnLeuHisThrValLy... | |
| NM_001330094.1:c.2974_3000dup | NP_001317023.1:p.Lys1000_Ile1001insAspThrSerAsnLeuHisThrValLy... | |
| NM_001330095.1:c.2935_2961dup | NP_001317024.1:p.Lys987_Ile988insAspThrSerAsnLeuHisThrValLys | |
| NM_001330096.1:c.2875_2901dup | NP_001317025.1:p.Lys967_Ile968insAspThrSerAsnLeuHisThrValLys | |
| NM_004801.5:c.2986_3012dup | NP_004792.1:p.Lys1004_Ile1005insAspThrSerAsnLeuHisThrValLys | |
| XM_005264642.4:c.3007_3033dup | XP_005264699.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_006712137.4:c.3007_3033dup | XP_006712200.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_006712140.4:c.3007_3033dup | XP_006712203.2:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533167.3:c.3007_3033dup | XP_011531469.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533172.3:c.2980_3006dup | XP_011531474.1:p.Lys1002_Ile1003insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533175.3:c.2950_2976dup | XP_011531477.1:p.Lys992_Ile993insAspThrSerAsnLeuHisThrValLys | |
| XM_011533177.3:c.3007_3033dup | XP_011531479.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533178.3:c.2917_2943dup | XP_011531480.1:p.Lys981_Ile982insAspThrSerAsnLeuHisThrValLys | |
| XM_011533180.3:c.3007_3033dup | XP_011531482.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_011533183.2:c.2140_2166dup | XP_011531485.1:p.Lys722_Ile723insAspThrSerAsnLeuHisThrValLys | |
| XM_017005303.2:c.3007_3033dup | XP_016860792.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005304.2:c.3004_3030dup | XP_016860793.1:p.Lys1010_Ile1011insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005305.2:c.3007_3033dup | XP_016860794.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005306.2:c.2995_3021dup | XP_016860795.1:p.Lys1007_Ile1008insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005307.2:c.2989_3015dup | XP_016860796.1:p.Lys1005_Ile1006insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005308.2:c.2986_3012dup | XP_016860797.1:p.Lys1004_Ile1005insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005309.2:c.2980_3006dup | XP_016860798.1:p.Lys1002_Ile1003insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005310.2:c.2977_3003dup | XP_016860799.1:p.Lys1001_Ile1002insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005311.2:c.2962_2988dup | XP_016860800.1:p.Lys996_Ile997insAspThrSerAsnLeuHisThrValLys | |
| XM_017005314.2:c.2947_2973dup | XP_016860803.1:p.Lys991_Ile992insAspThrSerAsnLeuHisThrValLys | |
| XM_017005315.2:c.2980_3006dup | XP_016860804.1:p.Lys1002_Ile1003insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005316.2:c.2944_2970dup | XP_016860805.1:p.Lys990_Ile991insAspThrSerAsnLeuHisThrValLys | |
| XM_017005318.2:c.2935_2961dup | XP_016860807.1:p.Lys987_Ile988insAspThrSerAsnLeuHisThrValLys | |
| XM_017005320.2:c.2959_2985dup | XP_016860809.1:p.Lys995_Ile996insAspThrSerAsnLeuHisThrValLys | |
| XM_017005321.2:c.3007_3033dup | XP_016860810.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005322.2:c.3007_3033dup | XP_016860811.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005324.2:c.2980_3006dup | XP_016860813.1:p.Lys1002_Ile1003insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005325.2:c.2980_3006dup | XP_016860814.1:p.Lys1002_Ile1003insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005326.2:c.2968_2994dup | XP_016860815.1:p.Lys998_Ile999insAspThrSerAsnLeuHisThrValLys | |
| XM_017005327.2:c.2962_2988dup | XP_016860816.1:p.Lys996_Ile997insAspThrSerAsnLeuHisThrValLys | |
| XM_017005329.2:c.3007_3033dup | XP_016860818.1:p.Lys1011_Ile1012insAspThrSerAsnLeuHisThrValLy... | |
| XM_017005334.2:c.2047_2073dup | XP_016860823.1:p.Lys691_Ile692insAspThrSerAsnLeuHisThrValLys | |
| NM_001330078.2:c.2986_3012dup MANE Select | NP_001317007.1:p.Lys1004_Ile1005insAspThrSerAsnLeuHisThrValLy... | |
| NM_001135659.3:c.3106_3132dup | NP_001129131.1:p.Lys1044_Ile1045insAspThrSerAsnLeuHisThrValLy... | |
| NM_001330077.2:c.2962_2988dup | NP_001317006.1:p.Lys996_Ile997insAspThrSerAsnLeuHisThrValLys | |
| NM_001330082.2:c.2962_2988dup | NP_001317011.1:p.Lys996_Ile997insAspThrSerAsnLeuHisThrValLys | |
| NM_001330083.2:c.2920_2946dup | NP_001317012.1:p.Lys982_Ile983insAspThrSerAsnLeuHisThrValLys | |
| NM_001330084.2:c.2920_2946dup | NP_001317013.1:p.Lys982_Ile983insAspThrSerAsnLeuHisThrValLys | |
| NM_001330085.2:c.2959_2985dup | NP_001317014.1:p.Lys995_Ile996insAspThrSerAsnLeuHisThrValLys | |
| NM_001330086.2:c.2986_3012dup | NP_001317015.1:p.Lys1004_Ile1005insAspThrSerAsnLeuHisThrValLy... | |
| NM_001330087.2:c.2875_2901dup | NP_001317016.1:p.Lys967_Ile968insAspThrSerAsnLeuHisThrValLys | |
| NM_001330088.2:c.2905_2931dup | NP_001317017.1:p.Lys977_Ile978insAspThrSerAsnLeuHisThrValLys | |
| NM_001330093.2:c.2983_3009dup | NP_001317022.1:p.Lys1003_Ile1004insAspThrSerAsnLeuHisThrValLy... | |
| NM_001330094.2:c.2974_3000dup | NP_001317023.1:p.Lys1000_Ile1001insAspThrSerAsnLeuHisThrValLy... | |
| NM_001330095.2:c.2935_2961dup | NP_001317024.1:p.Lys987_Ile988insAspThrSerAsnLeuHisThrValLys | |
| NM_001330096.2:c.2875_2901dup | NP_001317025.1:p.Lys967_Ile968insAspThrSerAsnLeuHisThrValLys | |
| NM_004801.6:c.2986_3012dup | NP_004792.1:p.Lys1004_Ile1005insAspThrSerAsnLeuHisThrValLys |