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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.5044325_5044358delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC , CM000674.2:g.5044325_5044358delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC
GRCh38
NC_000012.11:g.5153491_5153524delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC , CM000674.1:g.5153491_5153524delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC
GRCh37
NC_000012.10:g.5023752_5023785delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC
NCBI36
NG_012198.1:g.5407_5440delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC
Transcript Alleles
HGVS
Amino-acid change
ENST00000252321.5:c.178_211delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC
MANE Select
ENSP00000252321.3:p.Ala60=
ENST00000252321.4:c.178_211delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC
ENSP00000252321.3:p.Ala60=
NM_002234.3:c.178_211delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC
NP_002225.2:p.Ala60=
NM_002234.4:c.178_211delinsGCGGACTCGGGAGTGCGGCCCTTGCCTCCGCTGC
MANE Select
NP_002225.2:p.Ala60=