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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_000015.10:g.34794665_34794690delinsCGGCGGGAAGTTTACCTGGTGCCGCG , CM000677.2:g.34794665_34794690delinsCGGCGGGAAGTTTACCTGGTGCCGCG
GRCh38
NC_000015.9:g.35086866_35086891delinsCGGCGGGAAGTTTACCTGGTGCCGCG , CM000677.1:g.35086866_35086891delinsCGGCGGGAAGTTTACCTGGTGCCGCG
GRCh37
NC_000015.8:g.32874158_32874183delinsCGGCGGGAAGTTTACCTGGTGCCGCG
NCBI36
NG_007553.1:g.6037_6062delinsCGCGGCACCAGGTAAACTTCCCGCCG , LRG_388:g.6037_6062delinsCGCGGCACCAGGTAAACTTCCCGCCG
Transcript Alleles
HGVS
Amino-acid change
ENST00000560563.2:n.225_235+15delinsCGCGGCACCAGGTAAACTTCCCGCCG
(ACTC1)
ENST00000290378.6:c.119_129+15delinsCGCGGCACCAGGTAAACTTCCCGCCG
(ACTC1)
ENST00000290378.4:c.119_129+15delinsCGCGGCACCAGGTAAACTTCCCGCCG
(ACTC1)
NM_005159.4:c.119_129+15delinsCGCGGCACCAGGTAAACTTCCCGCCG , LRG_388t1:c.119_129+15delinsCGCGGCACCAGGTAAACTTCCCGCCG
(ACTC1)
NR_120329.1:n.300-15831_300-15806delinsCGGCGGGAAGTTTACCTGGTGCCGCG
(GJD2-DT)
NM_005159.5:c.119_129+15delinsCGCGGCACCAGGTAAACTTCCCGCCG
(ACTC1)