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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_000001.11:g.26696197_26696465del , CM000663.2:g.26696197_26696465del
GRCh38
NC_000001.10:g.27022688_27022956del , CM000663.1:g.27022688_27022956del
GRCh37
NC_000001.9:g.26895275_26895543del
NCBI36
NG_029965.1:g.5167_5435del , LRG_875:g.5167_5435del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000324856.13:c.-207_62del
ENST00000430799.7:c.-13+2580_-13+2848del
ENSP00000390317.3:n.-13+2580_-13+2848del
ENST00000637465.1:c.-13+97_-13+365del
ENSP00000490650.1:n.-13+97_-13+365del
ENST00000324856.11:c.-207_62del
NM_006015.4:c.-207_62del , LRG_875t1:c.-207_62del
NM_139135.2:c.-207_62del
NM_006015.5:c.-207_62del
NM_139135.3:c.-207_62del
NM_006015.6:c.-207_62del
NM_139135.4:c.-207_62del