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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.46118256del , CM000682.2:g.46118256del
GRCh38
NC_000020.10:g.44746895del , CM000682.1:g.44746895del
GRCh37
NC_000020.9:g.44180302del
NCBI36
NG_007279.1:g.4990del , LRG_40:g.4990del
Transcript Alleles
HGVS
Amino-acid change
NM_001250.5:c.-88del
NP_001241.1:n.-88del
NM_001302753.1:c.-88del
NP_001289682.1:n.-88del
NM_152854.3:c.-88del
NP_690593.1:n.-88del
NR_126502.1:n.3del
XM_005260617.2:c.-88del
XP_005260674.1:n.-88del
XM_005260619.2:c.-88del
XP_005260676.1:n.-88del
XM_011529109.1:c.-88del
XP_011527411.1:n.-88del
XR_936660.1:n.7del
NM_001322421.1:c.-88del
NP_001309350.1:n.-88del
NM_001322422.1:c.-88del
NP_001309351.1:n.-88del
NM_001362758.1:c.-88del
NP_001349687.1:n.-88del
NR_136327.1:n.3del
XM_005260619.3:c.-88del
XP_005260676.1:n.-88del
XM_011529109.2:c.-88del
XP_011527411.1:n.-88del
XM_017028135.1:c.-88del
XP_016883624.1:n.-88del
XM_017028136.1:c.-88del
XP_016883625.1:n.-88del