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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_000016.10:g.3727665dup , CM000678.2:g.3727665dup
GRCh38
NC_000016.9:g.3777666dup , CM000678.1:g.3777666dup
GRCh37
NC_000016.8:g.3717667dup
NCBI36
NG_009873.1:g.157459dup
NG_009873.2:g.158052dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000262367.10:c.*56dup
MANE Select
ENSP00000262367.5:n.*56dup
ENST00000262367.9:c.*56dup
ENSP00000262367.5:n.*56dup
ENST00000382070.7:c.*56dup
ENSP00000371502.3:n.*56dup
NM_001079846.1:c.*56dup
NP_001073315.1:n.*56dup
NM_004380.2:c.*56dup
NP_004371.2:n.*56dup
XM_005255124.3:c.*56dup
XP_005255181.1:n.*56dup
XM_005255125.3:c.*56dup
XP_005255182.1:n.*56dup
XM_006720848.2:c.*56dup
XP_006720911.1:n.*56dup
XM_011522380.1:c.*56dup
XP_011520682.1:n.*56dup
XM_011522381.1:c.*56dup
XP_011520683.1:n.*56dup
XM_005255124.4:c.*56dup
XP_005255181.1:n.*56dup
XM_005255125.4:c.*56dup
XP_005255182.1:n.*56dup
XM_006720848.3:c.*56dup
XP_006720911.1:n.*56dup
XM_011522381.2:c.*56dup
XP_011520683.1:n.*56dup
XM_017022944.1:c.*56dup
XP_016878433.1:n.*56dup
NM_004380.3:c.*56dup
MANE Select
NP_004371.2:n.*56dup