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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_000012.12:g.5044995_5045013delinsGCCACCCTCCGGCGCCCCA , CM000674.2:g.5044995_5045013delinsGCCACCCTCCGGCGCCCCA
GRCh38
NC_000012.11:g.5154161_5154179delinsGCCACCCTCCGGCGCCCCA , CM000674.1:g.5154161_5154179delinsGCCACCCTCCGGCGCCCCA
GRCh37
NC_000012.10:g.5024422_5024440delinsGCCACCCTCCGGCGCCCCA
NCBI36
NG_012198.1:g.6077_6095delinsGCCACCCTCCGGCGCCCCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000252321.5:c.848_866delinsGCCACCCTCCGGCGCCCCA
MANE Select
ENSP00000252321.3:p.Arg283=
ENST00000252321.4:c.848_866delinsGCCACCCTCCGGCGCCCCA
ENSP00000252321.3:p.Arg283=
NM_002234.3:c.848_866delinsGCCACCCTCCGGCGCCCCA
NP_002225.2:p.Arg283=
NM_002234.4:c.848_866delinsGCCACCCTCCGGCGCCCCA
MANE Select
NP_002225.2:p.Arg283=