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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.46085755_46085758delinsCTAA , CM000666.2:g.46085755_46085758delinsCTAA
GRCh38
NC_000004.11:g.46087772_46087775delinsCTAA , CM000666.1:g.46087772_46087775delinsCTAA
GRCh37
NC_000004.10:g.45782529_45782532delinsCTAA
NCBI36
NG_046964.1:g.43308_43311delinsTTAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000295452.5:c.254-1705_254-1702delinsTTAG
MANE Select
ENSP00000295452.4:n.254-1705_254-1702delinsTTAG
ENST00000295452.4:c.254-1705_254-1702delinsTTAG
ENSP00000295452.4:n.254-1705_254-1702delinsTTAG
NM_173536.3:c.254-1705_254-1702delinsTTAG
NP_775807.2:n.254-1705_254-1702delinsTTAG
NM_173536.4:c.254-1705_254-1702delinsTTAG
MANE Select
NP_775807.2:n.254-1705_254-1702delinsTTAG