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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_000014.9:g.28767591_28767600delinsCCCGCCGCCG , CM000676.2:g.28767591_28767600delinsCCCGCCGCCG
GRCh38
NC_000014.8:g.29236797_29236806delinsCCCGCCGCCG , CM000676.1:g.29236797_29236806delinsCCCGCCGCCG
GRCh37
NC_000014.7:g.28306548_28306557delinsCCCGCCGCCG
NCBI36
NG_009367.1:g.5511_5520delinsCCCGCCGCCG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000706482.1:c.312_321delinsCCCGCCGCCG
ENSP00000516406.1:p.Leu104=
ENST00000313071.7:c.312_321delinsCCCGCCGCCG
MANE Select
ENSP00000339004.3:p.Leu104=
ENST00000313071.6:c.312_321delinsCCCGCCGCCG
ENSP00000339004.3:p.Leu104=
NM_005249.4:c.312_321delinsCCCGCCGCCG
NP_005240.3:p.Leu104=
NM_005249.5:c.312_321delinsCCCGCCGCCG
MANE Select
NP_005240.3:p.Leu104=