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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_000003.12:g.129533558_129533572delinsAAGCACACTGTGGGC , CM000665.2:g.129533558_129533572delinsAAGCACACTGTGGGC
GRCh38
NC_000003.11:g.129252401_129252415delinsAAGCACACTGTGGGC , CM000665.1:g.129252401_129252415delinsAAGCACACTGTGGGC
GRCh37
NC_000003.10:g.130735091_130735105delinsAAGCACACTGTGGGC
NCBI36
NG_009115.1:g.9920_9934delinsAAGCACACTGTGGGC
Transcript Alleles
HGVS
Amino-acid change
ENST00000296271.4:c.937-50_937-36delinsAAGCACACTGTGGGC
MANE Select
ENSP00000296271.3:n.937-50_937-36delinsAA...
ENST00000296271.3:c.937-50_937-36delinsAAGCACACTGTGGGC
ENSP00000296271.3:n.937-50_937-36delinsAA...
NM_000539.3:c.937-50_937-36delinsAAGCACACTGTGGGC
MANE Select
NP_000530.1:n.937-50_937-36delinsAAGCACAC...