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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.640129_640167delinsTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGC , CM000673.2:g.640129_640167delinsTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGC
GRCh38
NC_000011.9:g.640129_640167delinsTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGC , CM000673.1:g.640129_640167delinsTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGC
GRCh37
NC_000011.8:g.630129_630167delinsTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGC
NCBI36
NG_021241.1:g.7825_7863delinsTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGC
Transcript Alleles
HGVS
Amino-acid change
ENST00000176183.6:c.880_918delinsTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGC
MANE Select
ENSP00000176183.5:p.Cys294=
ENST00000176183.5:c.880_918delinsTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGC
ENSP00000176183.5:p.Cys294=
NM_000797.3:c.880_918delinsTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGC
NP_000788.2:p.Cys294=
NM_000797.4:c.880_918delinsTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGC
MANE Select
NP_000788.2:p.Cys294=