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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_000023.11:g.25010195_25010199delinsATCTC , CM000685.2:g.25010195_25010199delinsATCTC
GRCh38
NC_000023.10:g.25028312_25028316delinsATCTC , CM000685.1:g.25028312_25028316delinsATCTC
GRCh37
NC_000023.9:g.24938233_24938237delinsATCTC
NCBI36
NG_008281.1:g.10750_10754delinsGAGAT
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1119+61_1119+65delinsGAGAT
MANE Select
ENSP00000368332.4:n.1119+61_1119+65delins...
ENST00000379044.4:c.1119+61_1119+65delinsGAGAT
ENSP00000368332.4:n.1119+61_1119+65delins...
NM_139058.2:c.1119+61_1119+65delinsGAGAT
NP_620689.1:n.1119+61_1119+65delinsGAGAT
NM_139058.3:c.1119+61_1119+65delinsGAGAT
MANE Select
NP_620689.1:n.1119+61_1119+65delinsGAGAT