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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_000008.11:g.10608260_10608305delinsCGCCTCTTCTGCCTCTTGGGCCTCTGCACCTTCTGACTCTGGCTCG , CM000670.2:g.10608260_10608305delinsCGCCTCTTCTGCCTCTTGGGCCTCTGCACCTTCTGACTCTGGCTCG
GRCh38
NC_000008.10:g.10465770_10465815delinsCGCCTCTTCTGCCTCTTGGGCCTCTGCACCTTCTGACTCTGGCTCG , CM000670.1:g.10465770_10465815delinsCGCCTCTTCTGCCTCTTGGGCCTCTGCACCTTCTGACTCTGGCTCG
GRCh37
NC_000008.9:g.10503180_10503225delinsCGCCTCTTCTGCCTCTTGGGCCTCTGCACCTTCTGACTCTGGCTCG
NCBI36
NG_028035.1:g.51803_51848delinsCGAGCCAGAGTCAGAAGGTGCAGAGGCCCAAGAGGCAGAAGAGGCG
Transcript Alleles
HGVS
Amino-acid change
ENST00000382483.4:c.5793_5838delinsCGAGCCAGAGTCAGAAGGTGCAGAGGCCCAAGAGGCAGAAGAGGCG
MANE Select
ENSP00000371923.3:p.Asp1931=
ENST00000382483.3:c.5793_5838delinsCGAGCCAGAGTCAGAAGGTGCAGAGGCCCAAGAGGCAGAAGAGGCG
ENSP00000371923.3:p.Asp1931=
NM_178857.5:c.5793_5838delinsCGAGCCAGAGTCAGAAGGTGCAGAGGCCCAAGAGGCAGAAGAGGCG
NP_849188.4:p.Asp1931=
NM_178857.6:c.5793_5838delinsCGAGCCAGAGTCAGAAGGTGCAGAGGCCCAAGAGGCAGAAGAGGCG
MANE Select
NP_849188.4:p.Asp1931=