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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_000011.10:g.27654140_27654141insAACATTGACTTGTGTTGTGTATATG , CM000673.2:g.27654140_27654141insAACATTGACTTGTGTTGTGTATATG
GRCh38
NC_000011.9:g.27675687_27675688insAACATTGACTTGTGTTGTGTATATG , CM000673.1:g.27675687_27675688insAACATTGACTTGTGTTGTGTATATG
GRCh37
NC_000011.8:g.27632263_27632264insAACATTGACTTGTGTTGTGTATATG
NCBI36
NG_011794.1:g.72916_72917insCATATACACAACACAAGTCAATGTT
Transcript Alleles
HGVS
Amino-acid Change
NR_002832.2:n.375-4101_375-4100insAACATTGACTTGTGTTGTGTATATG
NR_033312.1:n.306-4101_306-4100insAACATTGACTTGTGTTGTGTATATG
NR_033313.1:n.306-4101_306-4100insAACATTGACTTGTGTTGTGTATATG
NR_033314.1:n.375-4101_375-4100insAACATTGACTTGTGTTGTGTATATG
NR_033315.1:n.306-4101_306-4100insAACATTGACTTGTGTTGTGTATATG