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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.28768010_28768020delinsGCCACTACGAC , CM000676.2:g.28768010_28768020delinsGCCACTACGAC
GRCh38
NC_000014.8:g.29237216_29237226delinsGCCACTACGAC , CM000676.1:g.29237216_29237226delinsGCCACTACGAC
GRCh37
NC_000014.7:g.28306967_28306977delinsGCCACTACGAC
NCBI36
NG_009367.1:g.5930_5940delinsGCCACTACGAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000706482.1:c.731_741delinsGCCACTACGAC
ENSP00000516406.1:p.Arg244=
ENST00000313071.7:c.731_741delinsGCCACTACGAC
MANE Select
ENSP00000339004.3:p.Arg244=
ENST00000313071.6:c.731_741delinsGCCACTACGAC
ENSP00000339004.3:p.Arg244=
NM_005249.4:c.731_741delinsGCCACTACGAC
NP_005240.3:p.Arg244=
NM_005249.5:c.731_741delinsGCCACTACGAC
MANE Select
NP_005240.3:p.Arg244=