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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.215782187_215782197delinsATAATAGGACC , CM000663.2:g.215782187_215782197delinsATAATAGGACC
GRCh38
NC_000001.10:g.215955529_215955539delinsATAATAGGACC , CM000663.1:g.215955529_215955539delinsATAATAGGACC
GRCh37
NC_000001.9:g.214022152_214022162delinsATAATAGGACC
NCBI36
NG_009497.1:g.646200_646210delinsGGTCCTATTAT
NG_009497.2:g.646252_646262delinsGGTCCTATTAT
Transcript Alleles
HGVS
Amino-acid change
ENST00000307340.8:c.10586-1_10595delinsGGTCCTATTAT
ENST00000674083.1:c.10586-1_10595delinsGGTCCTATTAT
ENST00000307340.7:c.10586-1_10595delinsGGTCCTATTAT
NM_206933.2:c.10586-1_10595delinsGGTCCTATTAT
NM_206933.3:c.10586-1_10595delinsGGTCCTATTAT
NM_206933.4:c.10586-1_10595delinsGGTCCTATTAT