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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.10608190_10608238delinsCTTCCTCTTCTGCCTCCTGGGACTCTATAACTTCTGACTCTGGCTGGGT , CM000670.2:g.10608190_10608238delinsCTTCCTCTTCTGCCTCCTGGGACTCTATAACTTCTGACTCTGGCTGGGT
GRCh38
NC_000008.10:g.10465700_10465748delinsCTTCCTCTTCTGCCTCCTGGGACTCTATAACTTCTGACTCTGGCTGGGT , CM000670.1:g.10465700_10465748delinsCTTCCTCTTCTGCCTCCTGGGACTCTATAACTTCTGACTCTGGCTGGGT
GRCh37
NC_000008.9:g.10503110_10503158delinsCTTCCTCTTCTGCCTCCTGGGACTCTATAACTTCTGACTCTGGCTGGGT
NCBI36
NG_028035.1:g.51870_51918delinsACCCAGCCAGAGTCAGAAGTTATAGAGTCCCAGGAGGCAGAAGAGGAAG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000382483.4:c.5860_5908delinsACCCAGCCAGAGTCAGAAGTTATAGAGTCCCAGGAGGCAGAAGAGGAAG
MANE Select
ENSP00000371923.3:p.Thr1954=
ENST00000382483.3:c.5860_5908delinsACCCAGCCAGAGTCAGAAGTTATAGAGTCCCAGGAGGCAGAAGAGGAAG
ENSP00000371923.3:p.Thr1954=
NM_178857.5:c.5860_5908delinsACCCAGCCAGAGTCAGAAGTTATAGAGTCCCAGGAGGCAGAAGAGGAAG
NP_849188.4:p.Thr1954=
NM_178857.6:c.5860_5908delinsACCCAGCCAGAGTCAGAAGTTATAGAGTCCCAGGAGGCAGAAGAGGAAG
MANE Select
NP_849188.4:p.Thr1954=