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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_000002.12:g.102532661_102532678delinsCCATAGTCCTTTGCTCCA , CM000664.2:g.102532661_102532678delinsCCATAGTCCTTTGCTCCA
GRCh38
NC_000002.11:g.103149120_103149137delinsCCATAGTCCTTTGCTCCA , CM000664.1:g.103149120_103149137delinsCCATAGTCCTTTGCTCCA
GRCh37
NC_000002.10:g.102515552_102515569delinsCCATAGTCCTTTGCTCCA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000295269.5:c.2370_2387delinsCCATAGTCCTTTGCTCCA
MANE Select
ENSP00000295269.4:p.Ser790=
ENST00000295269.4:c.2370_2387delinsCCATAGTCCTTTGCTCCA
ENSP00000295269.4:p.Ser790=
NM_001011552.3:c.2370_2387delinsCCATAGTCCTTTGCTCCA
NP_001011552.2:p.Ser790=
XM_011511158.1:c.2283_2300delinsCCATAGTCCTTTGCTCCA
XP_011509460.1:p.Ser761=
NM_001011552.4:c.2370_2387delinsCCATAGTCCTTTGCTCCA
MANE Select
NP_001011552.2:p.Ser790=