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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_000011.10:g.640109_640157delinsAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCC , CM000673.2:g.640109_640157delinsAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCC
GRCh38
NC_000011.9:g.640109_640157delinsAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCC , CM000673.1:g.640109_640157delinsAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCC
GRCh37
NC_000011.8:g.630109_630157delinsAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCC
NCBI36
NG_021241.1:g.7805_7853delinsAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCC
Transcript Alleles
HGVS
Amino-acid change
ENST00000176183.6:c.860_908delinsAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCC
MANE Select
ENSP00000176183.5:p.Gln287=
ENST00000176183.5:c.860_908delinsAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCC
ENSP00000176183.5:p.Gln287=
NM_000797.3:c.860_908delinsAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCC
NP_000788.2:p.Gln287=
NM_000797.4:c.860_908delinsAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCC
MANE Select
NP_000788.2:p.Gln287=