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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_000006.12:g.1610344_1610369delinsTCGGCCGGGCCCGGACTCGGACTCGG , CM000668.2:g.1610344_1610369delinsTCGGCCGGGCCCGGACTCGGACTCGG
GRCh38
NC_000006.11:g.1610579_1610604delinsTCGGCCGGGCCCGGACTCGGACTCGG , CM000668.1:g.1610579_1610604delinsTCGGCCGGGCCCGGACTCGGACTCGG
GRCh37
NC_000006.10:g.1555578_1555603delinsTCGGCCGGGCCCGGACTCGGACTCGG
NCBI36
NG_009368.1:g.4899_4924delinsTCGGCCGGGCCCGGACTCGGACTCGG
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.-102_-77delinsTCGGCCGGGCCCGGACTCGGACTCGG
MANE Select
ENSP00000493906.1:n.-102_-77delinsTCGGCCGGGCCCGGACTCGGACTCGG
ENST00000380874.3:c.-102_-77delinsTCGGCCGGGCCCGGACTCGGACTCGG
ENSP00000370256.2:n.-102_-77delinsTCGGCCGGGCCCGGACTCGGACTCGG
NM_001453.3:c.-102_-77delinsTCGGCCGGGCCCGGACTCGGACTCGG
MANE Select
NP_001444.2:n.-102_-77delinsTCGGCCGGGCCCGGACTCGGACTCGG