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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_000017.11:g.47733750_47733768delinsCCGAGGGCTACCAGCCGGG , CM000679.2:g.47733750_47733768delinsCCGAGGGCTACCAGCCGGG
GRCh38
NC_000017.10:g.45811116_45811134delinsCCGAGGGCTACCAGCCGGG , CM000679.1:g.45811116_45811134delinsCCGAGGGCTACCAGCCGGG
GRCh37
NC_000017.9:g.43166115_43166133delinsCCGAGGGCTACCAGCCGGG
NCBI36
NG_012166.1:g.5507_5525delinsCCGAGGGCTACCAGCCGGG
Transcript Alleles
HGVS
Amino-acid change
ENST00000177694.2:c.296_314delinsCCGAGGGCTACCAGCCGGG
MANE Select
ENSP00000177694.1:p.Ala99=
ENST00000177694.1:c.296_314delinsCCGAGGGCTACCAGCCGGG
ENSP00000177694.1:p.Ala99=
ENST00000581328.1:n.326_344delinsCCGAGGGCTACCAGCCGGG
NM_013351.1:c.296_314delinsCCGAGGGCTACCAGCCGGG
NP_037483.1:p.Ala99=
XM_011524698.1:c.296_314delinsCCGAGGGCTACCAGCCGGG
XP_011523000.1:p.Ala99=
NM_013351.2:c.296_314delinsCCGAGGGCTACCAGCCGGG
MANE Select
NP_037483.1:p.Ala99=