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.152141196C= , CM000668.2:g.152141196C= | GRCh38 |
| NC_000006.11:g.152462331C= , CM000668.1:g.152462331C= | GRCh37 |
| NC_000006.10:g.152504024C= | NCBI36 |
| NG_012855.1:g.501204G= | |
| NG_012855.2:g.501204G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.1780+7G= MANE Plus Clinical | ENSP00000346701.4:n.1780+7G= | |
| ENST00000367255.10:c.25246+7G= MANE Select | ENSP00000356224.5:n.25246+7G= | |
| ENST00000423061.6:c.25102+7G= | ENSP00000396024.1:n.25102+7G= | |
| ENST00000672154.1:c.648+7G= | ||
| ENST00000672169.1:c.981+7G= | ||
| ENST00000673173.1:c.891-1035G= | ||
| ENST00000673451.1:c.1018+7G= | ENSP00000500189.1:n.1018+7G= | |
| ENST00000341594.9:c.24031+7G= | ENSP00000341887.6:n.24031+7G= | |
| ENST00000347037.9:n.1994+7G= | ||
| ENST00000354674.4:c.1780+7G= | ENSP00000346701.4:n.1780+7G= | |
| ENST00000367251.7:c.4081+7G= | ENSP00000356220.3:n.4081+7G= | |
| ENST00000367255.9:c.25246+7G= | ENSP00000356224.5:n.25246+7G= | |
| ENST00000367256.9:n.8938+7G= | ||
| ENST00000367257.8:c.3184+7G= | ENSP00000356226.4:n.3184+7G= | |
| ENST00000409694.6:n.8830+7G= | ||
| ENST00000423061.5:c.25102+7G= | ENSP00000396024.1:n.25102+7G= | |
| ENST00000460912.6:n.1860+7G= | ||
| ENST00000478916.5:n.4268+7G= | ||
| ENST00000536990.5:n.2083+7G= | ||
| ENST00000539504.5:c.1711+7G= | ENSP00000441052.1:n.1711+7G= | |
| NM_033071.3:c.25102+7G= | NP_149062.1:n.25102+7G= | |
| NM_182961.3:c.25246+7G= | NP_892006.3:n.25246+7G= | |
| XM_006715407.1:c.25351+7G= | XP_006715470.1:n.25351+7G= | |
| XM_006715408.1:c.25339+7G= | XP_006715471.1:n.25339+7G= | |
| XM_006715409.1:c.25330+7G= | XP_006715472.1:n.25330+7G= | |
| XM_006715410.1:c.25351+7G= | XP_006715473.1:n.25351+7G= | |
| XM_006715411.1:c.25300+7G= | XP_006715474.1:n.25300+7G= | |
| XM_006715412.1:c.25336+7G= | XP_006715475.1:n.25336+7G= | |
| XM_006715413.1:c.25282+7G= | XP_006715476.1:n.25282+7G= | |
| XM_006715414.1:c.25279+7G= | XP_006715477.1:n.25279+7G= | |
| XM_006715415.1:c.25282+7G= | XP_006715478.1:n.25282+7G= | |
| XM_006715416.1:c.25267+7G= | XP_006715479.1:n.25267+7G= | |
| XM_006715417.1:c.25210+7G= | XP_006715480.1:n.25210+7G= | |
| XM_006715420.1:c.25198+7G= | XP_006715483.1:n.25198+7G= | |
| XM_006715421.1:c.25195+7G= | XP_006715484.1:n.25195+7G= | |
| XM_006715422.1:c.25192+7G= | XP_006715485.1:n.25192+7G= | |
| XM_006715423.1:c.25351+7G= | XP_006715486.1:n.25351+7G= | |
| XM_006715424.1:c.25351+7G= | XP_006715487.1:n.25351+7G= | |
| XM_006715425.1:c.25282+7G= | XP_006715488.1:n.25282+7G= | |
| XM_011535641.1:c.25348+7G= | XP_011533943.1:n.25348+7G= | |
| XM_011535642.1:c.25336+7G= | XP_011533944.1:n.25336+7G= | |
| XM_011535643.1:c.25186+7G= | XP_011533945.1:n.25186+7G= | |
| XM_011535644.1:c.23626+7G= | XP_011533946.1:n.23626+7G= | |
| XM_011535645.1:c.23119+7G= | XP_011533947.1:n.23119+7G= | |
| XM_011535647.1:c.18586+7G= | XP_011533949.1:n.18586+7G= | |
| NM_001347701.1:c.1852+7G= | NP_001334630.1:n.1852+7G= | |
| NM_001347702.1:c.1780+7G= | NP_001334631.1:n.1780+7G= | |
| XM_006715408.2:c.25339+7G= | XP_006715471.1:n.25339+7G= | |
| XM_006715410.2:c.25351+7G= | XP_006715473.1:n.25351+7G= | |
| XM_006715412.2:c.25336+7G= | XP_006715475.1:n.25336+7G= | |
| XM_006715413.2:c.25282+7G= | XP_006715476.1:n.25282+7G= | |
| XM_006715415.2:c.25282+7G= | XP_006715478.1:n.25282+7G= | |
| XM_006715416.2:c.25267+7G= | XP_006715479.1:n.25267+7G= | |
| XM_006715417.2:c.25210+7G= | XP_006715480.1:n.25210+7G= | |
| XM_006715420.2:c.25198+7G= | XP_006715483.1:n.25198+7G= | |
| XM_006715421.2:c.25195+7G= | XP_006715484.1:n.25195+7G= | |
| XM_006715423.2:c.25351+7G= | XP_006715486.1:n.25351+7G= | |
| XM_006715424.2:c.25351+7G= | XP_006715487.1:n.25351+7G= | |
| XM_006715425.2:c.25282+7G= | XP_006715488.1:n.25282+7G= | |
| XM_011535641.2:c.25348+7G= | XP_011533943.1:n.25348+7G= | |
| XM_011535642.2:c.25336+7G= | XP_011533944.1:n.25336+7G= | |
| XM_011535645.2:c.23119+7G= | XP_011533947.1:n.23119+7G= | |
| XM_017010608.1:c.25351+7G= | XP_016866097.1:n.25351+7G= | |
| XM_017010609.1:c.25351+7G= | XP_016866098.1:n.25351+7G= | |
| XM_017010610.1:c.25330+7G= | XP_016866099.1:n.25330+7G= | |
| XM_017010611.2:c.25324+7G= | XP_016866100.1:n.25324+7G= | |
| XM_017010612.1:c.25273+7G= | XP_016866101.1:n.25273+7G= | |
| XM_017010613.1:c.25279+7G= | XP_016866102.1:n.25279+7G= | |
| XM_017010614.1:c.25195+7G= | XP_016866103.1:n.25195+7G= | |
| XM_017010615.1:c.25126+7G= | XP_016866104.1:n.25126+7G= | |
| XM_017010616.1:c.25282+7G= | XP_016866105.1:n.25282+7G= | |
| XM_017010617.1:c.25279+7G= | XP_016866106.1:n.25279+7G= | |
| XM_017010618.1:c.25267+7G= | XP_016866107.1:n.25267+7G= | |
| XM_017010619.1:c.23626+7G= | XP_016866108.1:n.23626+7G= | |
| NM_182961.4:c.25246+7G= MANE Select | NP_892006.3:n.25246+7G= | |
| NM_001347701.2:c.1852+7G= | NP_001334630.1:n.1852+7G= | |
| NM_001347702.2:c.1780+7G= MANE Plus Clinical | NP_001334631.1:n.1780+7G= | |
| NM_033071.5:c.25102+7G= | NP_149062.2:n.25102+7G= |