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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_000016.10:g.86510686_86510701delinsCAACGCCGGCATCCGG , CM000678.2:g.86510686_86510701delinsCAACGCCGGCATCCGG
GRCh38
NC_000016.9:g.86544292_86544307delinsCAACGCCGGCATCCGG , CM000678.1:g.86544292_86544307delinsCAACGCCGGCATCCGG
GRCh37
NC_000016.8:g.85101793_85101808delinsCAACGCCGGCATCCGG
NCBI36
NG_016273.1:g.5160_5175delinsCAACGCCGGCATCCGG
Transcript Alleles
HGVS
Amino-acid change
ENST00000262426.6:c.117_132delinsCAACGCCGGCATCCGG
MANE Select
ENSP00000262426.4:p.Thr39=
ENST00000262426.5:c.117_132delinsCAACGCCGGCATCCGG
ENSP00000262426.4:p.Thr39=
NM_001451.2:c.117_132delinsCAACGCCGGCATCCGG
NP_001442.2:p.Thr39=
NM_001451.3:c.117_132delinsCAACGCCGGCATCCGG
MANE Select
NP_001442.2:p.Thr39=