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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_000011.10:g.640126_640174delinsGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCA , CM000673.2:g.640126_640174delinsGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCA
GRCh38
NC_000011.9:g.640126_640174delinsGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCA , CM000673.1:g.640126_640174delinsGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCA
GRCh37
NC_000011.8:g.630126_630174delinsGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCA
NCBI36
NG_021241.1:g.7822_7870delinsGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000176183.6:c.877_925delinsGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCA
MANE Select
ENSP00000176183.5:p.Asp293=
ENST00000176183.5:c.877_925delinsGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCA
ENSP00000176183.5:p.Asp293=
NM_000797.3:c.877_925delinsGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCA
NP_000788.2:p.Asp293=
NM_000797.4:c.877_925delinsGACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCA
MANE Select
NP_000788.2:p.Asp293=