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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_000017.11:g.40099313_40099318delinsGGAGGA , CM000679.2:g.40099313_40099318delinsGGAGGA
GRCh38
NC_000017.10:g.38255566_38255571delinsGGAGGA , CM000679.1:g.38255566_38255571delinsGGAGGA
GRCh37
NC_000017.9:g.35509092_35509097delinsGGAGGA
NCBI36
NG_033084.1:g.6408_6413delinsTCCTCC
Transcript Alleles
HGVS
Amino-acid change
ENST00000246672.4:c.31+746_31+751delinsTCCTCC
MANE Select
ENSP00000246672.3:n.31+746_31+751delinsTCCTCC
ENST00000246672.3:c.31+746_31+751delinsTCCTCC
ENSP00000246672.3:n.31+746_31+751delinsTCCTCC
NM_021724.4:c.31+746_31+751delinsTCCTCC
NP_068370.1:n.31+746_31+751delinsTCCTCC
NM_021724.5:c.31+746_31+751delinsTCCTCC
MANE Select
NP_068370.1:n.31+746_31+751delinsTCCTCC