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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_000001.11:g.114705236_114705241delinsCTAAAA , CM000663.2:g.114705236_114705241delinsCTAAAA
GRCh38
NC_000001.10:g.115247857_115247862delinsCTAAAA , CM000663.1:g.115247857_115247862delinsCTAAAA
GRCh37
NC_000001.9:g.115049380_115049385delinsCTAAAA
NCBI36
NG_007572.1:g.16654_16659delinsTTTTAG , LRG_92:g.16654_16659delinsTTTTAG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000369535.5:c.*2853_*2858delinsTTTTAG
MANE Select
ENSP00000358548.4:n.*2853_*2858delinsTTTTAG
ENST00000369535.4:c.*2853_*2858delinsTTTTAG
ENSP00000358548.4:n.*2853_*2858delinsTTTTAG
NM_002524.4:c.*2853_*2858delinsTTTTAG
NP_002515.1:n.*2853_*2858delinsTTTTAG
NM_002524.5:c.*2853_*2858delinsTTTTAG
MANE Select
NP_002515.1:n.*2853_*2858delinsTTTTAG