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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_000019.10:g.41354195_41354214delinsGGTGTGGGTCACCAGAGAAA , CM000681.2:g.41354195_41354214delinsGGTGTGGGTCACCAGAGAAA
GRCh38
NC_000019.9:g.41860100_41860119delinsGGTGTGGGTCACCAGAGAAA , CM000681.1:g.41860100_41860119delinsGGTGTGGGTCACCAGAGAAA
GRCh37
NC_000019.8:g.46551940_46551959delinsGGTGTGGGTCACCAGAGAAA
NCBI36
NG_013091.1:g.14960_14979delinsTTTCTCTGGTGACCCACACC
NG_013364.1:g.4713_4732delinsTTTCTCTGGTGACCCACACC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000539627.5:c.-30+2993_-30+3012delinsGGTGTGGGTCACCAGAGAAA
ENSP00000441900.1:n.-30+2993_-30+3012delinsGGTGTGGGTCACCAGAGA...
ENST00000604123.5:c.22_41delinsGGTGTGGGTCACCAGAGAAA
ENSP00000474871.1:p.Gly8=
ENST00000604424.1:n.350+2993_350+3012delinsGGTGTGGGTCACCAGAGAAA