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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_000005.10:g.134371122del , CM000667.2:g.134371122del
GRCh38
NC_000005.9:g.133706813del , CM000667.1:g.133706813del
GRCh37
NC_000005.8:g.133734712del
NCBI36
NG_042179.2:g.4926del
NG_046936.1:g.4947del
Transcript Alleles
HGVS
Amino-acid Change
XM_011543441.1:c.-224+276del
XP_011541743.1:n.-224+276del
XM_017009544.2:c.-756del
XP_016865033.1:n.-756del
XM_017009545.2:c.-561del
XP_016865034.1:n.-561del
XM_024446086.1:c.-146del
XP_024301854.1:n.-146del
XM_024446093.1:c.227+276del
XP_024301861.1:n.227+276del
XM_024446096.1:c.-527del
XP_024301864.1:n.-527del
XM_024446097.1:c.-548del
XP_024301865.1:n.-548del
XM_024446099.1:c.-439+276del
XP_024301867.1:n.-439+276del
XM_024446100.1:c.-348del
XP_024301868.1:n.-348del
XM_024446101.1:c.-138del
XP_024301869.1:n.-138del
XM_024446103.1:c.-348del
XP_024301871.1:n.-348del