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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.46118262del , CM000682.2:g.46118262del
GRCh38
NC_000020.10:g.44746901del , CM000682.1:g.44746901del
GRCh37
NC_000020.9:g.44180308del
NCBI36
NG_007279.1:g.4996del , LRG_40:g.4996del
Transcript Alleles
HGVS
Amino-acid change
NM_001250.5:c.-82del
NP_001241.1:n.-82del
NM_001302753.1:c.-82del
NP_001289682.1:n.-82del
NM_152854.3:c.-82del
NP_690593.1:n.-82del
NR_126502.1:n.9del
XM_005260617.2:c.-82del
XP_005260674.1:n.-82del
XM_005260619.2:c.-82del
XP_005260676.1:n.-82del
XM_011529109.1:c.-82del
XP_011527411.1:n.-82del
XR_936660.1:n.13del
NM_001322421.1:c.-82del
NP_001309350.1:n.-82del
NM_001322422.1:c.-82del
NP_001309351.1:n.-82del
NM_001362758.1:c.-82del
NP_001349687.1:n.-82del
NR_136327.1:n.9del
XM_005260619.3:c.-82del
XP_005260676.1:n.-82del
XM_011529109.2:c.-82del
XP_011527411.1:n.-82del
XM_017028135.1:c.-82del
XP_016883624.1:n.-82del
XM_017028136.1:c.-82del
XP_016883625.1:n.-82del