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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_000002.12:g.216033853_216033872delinsTACCATACAAATCAGAAATA , CM000664.2:g.216033853_216033872delinsTACCATACAAATCAGAAATA
GRCh38
NC_000002.11:g.216898576_216898595delinsTACCATACAAATCAGAAATA , CM000664.1:g.216898576_216898595delinsTACCATACAAATCAGAAATA
GRCh37
NC_000002.10:g.216606821_216606840delinsTACCATACAAATCAGAAATA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000424992.5:c.-68+90_-68+109delinsTATTTCTGATTTGTATGGTA
(MREG)
ENSP00000413302.1:n.-68+90_-68+109delinsTATTTCTGATTTGTATGGTA
ENST00000442122.5:c.*440+5319_*440+5338delinsTATTTCTGATTTGTATGGTA
(PECR)
ENSP00000395512.1:n.*440+5319_*440+5338delinsTATTTCTGATTTGTAT...
XR_001738847.2:n.1056-1020_1056-1001delinsTATTTCTGATTTGTATGGTA
(PECR)
NM_001372189.1:c.-68+90_-68+109delinsTATTTCTGATTTGTATGGTA
(MREG)
NP_001359118.1:n.-68+90_-68+109delinsTATTTCTGATTTGTATGGTA