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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_000010.11:g.88935063_88935086delinsAACGCAAGAAGTTACCAGTAGCCT , CM000672.2:g.88935063_88935086delinsAACGCAAGAAGTTACCAGTAGCCT
GRCh38
NC_000010.10:g.90694820_90694843delinsAACGCAAGAAGTTACCAGTAGCCT , CM000672.1:g.90694820_90694843delinsAACGCAAGAAGTTACCAGTAGCCT
GRCh37
NC_000010.9:g.90684800_90684823delinsAACGCAAGAAGTTACCAGTAGCCT
NCBI36
NG_011541.1:g.61305_61328delinsAGGCTACTGGTAACTTCTTGCGTT , LRG_781:g.61305_61328delinsAGGCTACTGGTAACTTCTTGCGTT
Transcript Alleles
HGVS
Amino-acid change
ENST00000371927.7:c.1254+12627_1254+12650delinsAACGCAAGAAGTTACCAGTAGCCT
(STAMBPL1)
ENSP00000360995.3:n.1254+12627_1254+12650delinsAACGCAAGAAGTTA...
NR_125373.1:n.688_711delinsAACGCAAGAAGTTACCAGTAGCCT
(ACTA2-AS1)