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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_000004.12:g.99352988_99353001delinsCTCCTCTCTCAAGT , CM000666.2:g.99352988_99353001delinsCTCCTCTCTCAAGT
GRCh38
NC_000004.11:g.100274145_100274158delinsCTCCTCTCTCAAGT , CM000666.1:g.100274145_100274158delinsCTCCTCTCTCAAGT
GRCh37
NC_000004.10:g.100493168_100493181delinsCTCCTCTCTCAAGT
NCBI36
NG_011718.1:g.4760_4773delinsACTTGAGAGAGGAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000515683.5:c.-326_-313delinsACTTGAGAGAGGAG
ENSP00000426083.1:n.-326_-313delinsACTTGA...
NM_000669.4:c.-326_-313delinsACTTGAGAGAGGAG
NP_000660.1:n.-326_-313delinsACTTGAGAGAGG...
NR_133005.1:n.45_58delinsACTTGAGAGAGGAG
XM_011531589.1:c.-566_-553delinsACTTGAGAGAGGAG
XP_011529891.1:n.-566_-553delinsACTTGAGAG...