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.152151993dup , CM000668.2:g.152151993dup | GRCh38 |
| NC_000006.11:g.152473128dup , CM000668.1:g.152473128dup | GRCh37 |
| NC_000006.10:g.152514821dup | NCBI36 |
| NG_012855.1:g.490410dup | |
| NG_012855.2:g.490410dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.746dup MANE Plus Clinical | ENSP00000346701.4:p.Arg250AlafsTer17 | |
| ENST00000367255.10:c.24281dup MANE Select | ENSP00000356224.5:p.Arg8095AlafsTer17 | |
| ENST00000423061.6:c.24068dup | ENSP00000396024.1:p.Arg8024AlafsTer17 | |
| ENST00000672169.1:c.16dup | ||
| ENST00000673173.1:c.195dup | ||
| ENST00000673451.1:c.53dup | ENSP00000500189.1:p.Arg19AlafsTer17 | |
| ENST00000341594.9:c.23066dup | ENSP00000341887.6:p.Arg7690AlafsTer17 | |
| ENST00000347037.9:n.960dup | ||
| ENST00000354674.4:c.746dup | ENSP00000346701.4:p.Arg250AlafsTer17 | |
| ENST00000367251.7:c.3047dup | ENSP00000356220.3:p.Arg1017AlafsTer17 | |
| ENST00000367255.9:c.24281dup | ENSP00000356224.5:p.Arg8095AlafsTer17 | |
| ENST00000367256.9:n.7973dup | ||
| ENST00000367257.8:c.2219dup | ENSP00000356226.4:p.Arg741AlafsTer17 | |
| ENST00000409694.6:n.7865dup | ||
| ENST00000423061.5:c.24068dup | ENSP00000396024.1:p.Arg8024AlafsTer17 | |
| ENST00000460912.6:n.826dup | ||
| ENST00000476519.1:n.343dup | ||
| ENST00000536990.5:n.1118dup | ||
| ENST00000539504.5:c.746dup | ENSP00000441052.1:p.Arg250AlafsTer17 | |
| NM_033071.3:c.24068dup | NP_149062.1:p.Arg8024AlafsTer17 | |
| NM_182961.3:c.24281dup | NP_892006.3:p.Arg8095AlafsTer17 | |
| XM_006715407.1:c.24317dup | XP_006715470.1:p.Arg8107AlafsTer17 | |
| XM_006715408.1:c.24305dup | XP_006715471.1:p.Arg8103AlafsTer17 | |
| XM_006715409.1:c.24296dup | XP_006715472.1:p.Arg8100AlafsTer17 | |
| XM_006715410.1:c.24317dup | XP_006715473.1:p.Arg8107AlafsTer17 | |
| XM_006715411.1:c.24266dup | XP_006715474.1:p.Arg8090AlafsTer17 | |
| XM_006715412.1:c.24302dup | XP_006715475.1:p.Arg8102AlafsTer17 | |
| XM_006715413.1:c.24317dup | XP_006715476.1:p.Arg8107AlafsTer17 | |
| XM_006715414.1:c.24245dup | XP_006715477.1:p.Arg8083AlafsTer17 | |
| XM_006715415.1:c.24317dup | XP_006715478.1:p.Arg8107AlafsTer17 | |
| XM_006715416.1:c.24302dup | XP_006715479.1:p.Arg8102AlafsTer17 | |
| XM_006715417.1:c.24176dup | XP_006715480.1:p.Arg8060AlafsTer17 | |
| XM_006715420.1:c.24164dup | XP_006715483.1:p.Arg8056AlafsTer17 | |
| XM_006715421.1:c.24161dup | XP_006715484.1:p.Arg8055AlafsTer17 | |
| XM_006715422.1:c.24158dup | XP_006715485.1:p.Arg8054AlafsTer17 | |
| XM_006715423.1:c.24317dup | XP_006715486.1:p.Arg8107AlafsTer17 | |
| XM_006715424.1:c.24317dup | XP_006715487.1:p.Arg8107AlafsTer17 | |
| XM_006715425.1:c.24317dup | XP_006715488.1:p.Arg8107AlafsTer17 | |
| XM_011535641.1:c.24314dup | XP_011533943.1:p.Arg8106AlafsTer17 | |
| XM_011535642.1:c.24302dup | XP_011533944.1:p.Arg8102AlafsTer17 | |
| XM_011535643.1:c.24152dup | XP_011533945.1:p.Arg8052AlafsTer17 | |
| XM_011535644.1:c.22592dup | XP_011533946.1:p.Arg7532AlafsTer17 | |
| XM_011535645.1:c.22085dup | XP_011533947.1:p.Arg7363AlafsTer17 | |
| XM_011535647.1:c.17552dup | XP_011533949.1:p.Arg5852AlafsTer17 | |
| NM_001347701.1:c.887dup | NP_001334630.1:p.Arg297AlafsTer17 | |
| NM_001347702.1:c.746dup | NP_001334631.1:p.Arg250AlafsTer17 | |
| XM_006715408.2:c.24305dup | XP_006715471.1:p.Arg8103AlafsTer17 | |
| XM_006715410.2:c.24317dup | XP_006715473.1:p.Arg8107AlafsTer17 | |
| XM_006715412.2:c.24302dup | XP_006715475.1:p.Arg8102AlafsTer17 | |
| XM_006715413.2:c.24317dup | XP_006715476.1:p.Arg8107AlafsTer17 | |
| XM_006715415.2:c.24317dup | XP_006715478.1:p.Arg8107AlafsTer17 | |
| XM_006715416.2:c.24302dup | XP_006715479.1:p.Arg8102AlafsTer17 | |
| XM_006715417.2:c.24176dup | XP_006715480.1:p.Arg8060AlafsTer17 | |
| XM_006715420.2:c.24164dup | XP_006715483.1:p.Arg8056AlafsTer17 | |
| XM_006715421.2:c.24161dup | XP_006715484.1:p.Arg8055AlafsTer17 | |
| XM_006715423.2:c.24317dup | XP_006715486.1:p.Arg8107AlafsTer17 | |
| XM_006715424.2:c.24317dup | XP_006715487.1:p.Arg8107AlafsTer17 | |
| XM_006715425.2:c.24317dup | XP_006715488.1:p.Arg8107AlafsTer17 | |
| XM_011535641.2:c.24314dup | XP_011533943.1:p.Arg8106AlafsTer17 | |
| XM_011535642.2:c.24302dup | XP_011533944.1:p.Arg8102AlafsTer17 | |
| XM_011535645.2:c.22085dup | XP_011533947.1:p.Arg7363AlafsTer17 | |
| XM_017010608.1:c.24317dup | XP_016866097.1:p.Arg8107AlafsTer17 | |
| XM_017010609.1:c.24317dup | XP_016866098.1:p.Arg8107AlafsTer17 | |
| XM_017010610.1:c.24296dup | XP_016866099.1:p.Arg8100AlafsTer17 | |
| XM_017010611.2:c.24290dup | XP_016866100.1:p.Arg8098AlafsTer17 | |
| XM_017010612.1:c.24239dup | XP_016866101.1:p.Arg8081AlafsTer17 | |
| XM_017010613.1:c.24314dup | XP_016866102.1:p.Arg8106AlafsTer17 | |
| XM_017010614.1:c.24161dup | XP_016866103.1:p.Arg8055AlafsTer17 | |
| XM_017010615.1:c.24161dup | XP_016866104.1:p.Arg8055AlafsTer17 | |
| XM_017010616.1:c.24317dup | XP_016866105.1:p.Arg8107AlafsTer17 | |
| XM_017010617.1:c.24314dup | XP_016866106.1:p.Arg8106AlafsTer17 | |
| XM_017010618.1:c.24302dup | XP_016866107.1:p.Arg8102AlafsTer17 | |
| XM_017010619.1:c.22592dup | XP_016866108.1:p.Arg7532AlafsTer17 | |
| NM_182961.4:c.24281dup MANE Select | NP_892006.3:p.Arg8095AlafsTer17 | |
| NM_001347701.2:c.887dup | NP_001334630.1:p.Arg297AlafsTer17 | |
| NM_001347702.2:c.746dup MANE Plus Clinical | NP_001334631.1:p.Arg250AlafsTer17 | |
| NM_033071.5:c.24068dup | NP_149062.2:p.Arg8024AlafsTer17 |