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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_000005.10:g.148826974_148827010delinsTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAA , CM000667.2:g.148826974_148827010delinsTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAA
GRCh38
NC_000005.9:g.148206537_148206573delinsTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAA , CM000667.1:g.148206537_148206573delinsTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAA
GRCh37
NC_000005.8:g.148186730_148186766delinsTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAA
NCBI36
NG_016421.1:g.5382_5418delinsTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAA
NG_016421.2:g.5382_5418delinsTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAA
Transcript Alleles
HGVS
Amino-acid change
ENST00000305988.6:c.143_179delinsTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAA
MANE Select
ENSP00000305372.4:p.Val48=
ENST00000305988.5:c.143_179delinsTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAA
ENSP00000305372.4:p.Val48=
NM_000024.5:c.143_179delinsTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAA
NP_000015.1:p.Val48=
NM_000024.6:c.143_179delinsTGTTTGGCAATGTGCTGGTCATCACAGCCATTGCCAA
MANE Select
NP_000015.2:p.Val48=