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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.186539571_186539600delinsAAAATTTTTGTCTTCATAGAAAGTAATCTG , CM000665.2:g.186539571_186539600delinsAAAATTTTTGTCTTCATAGAAAGTAATCTG
GRCh38
NC_000003.11:g.186257360_186257389delinsAAAATTTTTGTCTTCATAGAAAGTAATCTG , CM000665.1:g.186257360_186257389delinsAAAATTTTTGTCTTCATAGAAAGTAATCTG
GRCh37
NC_000003.10:g.187740054_187740083delinsAAAATTTTTGTCTTCATAGAAAGTAATCTG
NCBI36
NG_009829.1:g.9779_9808delinsCAGATTACTTTCTATGAAGACAAAAATTTT
Transcript Alleles
HGVS
Amino-acid change
ENST00000307944.6:c.22-3_48delinsCAGATTACTTTCTATGAAGACAAAAATTTT
ENST00000307944.5:c.22-3_48delinsCAGATTACTTTCTATGAAGACAAAAATTTT
ENST00000392499.6:c.22-3_48delinsCAGATTACTTTCTATGAAGACAAAAATTTT
ENST00000460288.1:n.921_950delinsCAGATTACTTTCTATGAAGACAAAAATTTT
NM_017541.2:c.22-3_48delinsCAGATTACTTTCTATGAAGACAAAAATTTT
NM_017541.3:c.22-3_48delinsCAGATTACTTTCTATGAAGACAAAAATTTT
NM_017541.4:c.22-3_48delinsCAGATTACTTTCTATGAAGACAAAAATTTT