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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.
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.47973016dup , CM000674.2:g.47973016dup
GRCh38
NC_000012.11:g.48366799dup , CM000674.1:g.48366799dup
GRCh37
NC_000012.10:g.46653066dup
NCBI36
NG_008072.1:g.36492dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000380518.8:c.*396dup
MANE Select
ENSP00000369889.3:n.*396dup
ENST00000380518.7:c.*396dup
ENSP00000369889.3:n.*396dup
NM_001844.4:c.*396dup
NP_001835.3:n.*396dup
NM_033150.2:c.*396dup
NP_149162.2:n.*396dup
XM_006719242.2:c.*396dup
XP_006719305.2:n.*396dup
XM_011537928.1:c.*396dup
XP_011536230.1:n.*396dup
XM_011537929.1:c.*396dup
XP_011536231.1:n.*396dup
XM_011537930.1:c.*396dup
XP_011536232.1:n.*396dup
XM_011537931.1:c.*396dup
XP_011536233.1:n.*396dup
XM_011537932.1:c.*396dup
XP_011536234.1:n.*396dup
XM_011537933.1:c.*396dup
XP_011536235.1:n.*396dup
XM_011537934.1:c.*396dup
XP_011536236.1:n.*396dup
XM_011537935.1:c.*396dup
XP_011536237.1:n.*396dup
XM_017018828.1:c.*396dup
XP_016874317.1:n.*396dup
XM_017018829.1:c.*396dup
XP_016874318.1:n.*396dup
XM_017018830.1:c.*396dup
XP_016874319.1:n.*396dup
XM_017018831.2:c.*396dup
XP_016874320.1:n.*396dup
NM_001844.5:c.*396dup
MANE Select
NP_001835.3:n.*396dup
NM_033150.3:c.*396dup
NP_149162.2:n.*396dup