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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_000020.11:g.46118273dup , CM000682.2:g.46118273dup
GRCh38
NC_000020.10:g.44746912dup , CM000682.1:g.44746912dup
GRCh37
NC_000020.9:g.44180319dup
NCBI36
NG_007279.1:g.5007dup , LRG_40:g.5007dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000695669.1:n.3dup
ENST00000372285.7:c.-71dup
ENSP00000361359.3:n.-71dup
NM_001250.5:c.-71dup
NP_001241.1:n.-71dup
NM_001302753.1:c.-71dup
NP_001289682.1:n.-71dup
NM_152854.3:c.-71dup
NP_690593.1:n.-71dup
NR_126502.1:n.20dup
XM_005260617.2:c.-71dup
XP_005260674.1:n.-71dup
XM_005260619.2:c.-71dup
XP_005260676.1:n.-71dup
XM_011529109.1:c.-71dup
XP_011527411.1:n.-71dup
XR_936660.1:n.24dup
NM_001322421.1:c.-71dup
NP_001309350.1:n.-71dup
NM_001322422.1:c.-71dup
NP_001309351.1:n.-71dup
NM_001362758.1:c.-71dup
NP_001349687.1:n.-71dup
NR_136327.1:n.20dup
XM_005260619.3:c.-71dup
XP_005260676.1:n.-71dup
XM_011529109.2:c.-71dup
XP_011527411.1:n.-71dup
XM_017028135.1:c.-71dup
XP_016883624.1:n.-71dup
XM_017028136.1:c.-71dup
XP_016883625.1:n.-71dup