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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.87612011_87612019delinsTTGTGTGTG , CM000666.2:g.87612011_87612019delinsTTGTGTGTG
GRCh38
NC_000004.11:g.88533163_88533171delinsTTGTGTGTG , CM000666.1:g.88533163_88533171delinsTTGTGTGTG
GRCh37
NC_000004.10:g.88752187_88752195delinsTTGTGTGTG
NCBI36
NG_011595.1:g.8483_8491delinsTTGTGTGTG
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.52-94_52-86delinsTTGTGTGTG
MANE Select
ENSP00000498766.1:n.52-94_52-86delinsTTGT...
ENST00000282478.7:c.52-94_52-86delinsTTGTGTGTG
ENSP00000282478.7:n.52-94_52-86delinsTTGT...
ENST00000399271.5:c.52-94_52-86delinsTTGTGTGTG
ENSP00000382213.1:n.52-94_52-86delinsTTGT...
NM_014208.3:c.52-94_52-86delinsTTGTGTGTG
MANE Select
NP_055023.2:n.52-94_52-86delinsTTGTGTGTG