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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_000004.12:g.156762565del , CM000666.2:g.156762565del
GRCh38
NC_000004.11:g.157683717del , CM000666.1:g.157683717del
GRCh37
NC_000004.10:g.157903167del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000502773.6:c.*526del
MANE Select
ENSP00000422464.1:n.*526del
ENST00000274071.6:c.*1472del
ENSP00000274071.2:n.*1472del
ENST00000502773.5:c.*526del
ENSP00000422464.1:n.*526del
NM_016205.2:c.*526del
NP_057289.1:n.*526del
NR_036641.1:n.2116del
XM_011532124.1:c.*526del
XP_011530426.1:n.*526del
XM_011532125.1:c.*526del
XP_011530427.1:n.*526del
XM_011532124.2:c.*526del
XP_011530426.1:n.*526del
XM_017008455.1:c.*526del
XP_016863944.1:n.*526del
XM_017008456.2:c.*526del
XP_016863945.1:n.*526del
NM_016205.3:c.*526del
MANE Select
NP_057289.1:n.*526del
NR_036641.2:n.2521del