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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.114713901_114713907delinsATCTTCG , CM000663.2:g.114713901_114713907delinsATCTTCG
GRCh38
NC_000001.10:g.115256522_115256528delinsATCTTCG , CM000663.1:g.115256522_115256528delinsATCTTCG
GRCh37
NC_000001.9:g.115058045_115058051delinsATCTTCG
NCBI36
NG_007572.1:g.7988_7994delinsCGAAGAT , LRG_92:g.7988_7994delinsCGAAGAT
Transcript Alleles
HGVS
Amino-acid change
ENST00000369535.5:c.183_189delinsCGAAGAT
MANE Select
ENSP00000358548.4:p.Gln61_Glu63delinsHisGluAsp
ENST00000369535.4:c.183_189delinsCGAAGAT
ENSP00000358548.4:p.Gln61_Glu63delinsHisGluAsp
NM_002524.4:c.183_189delinsCGAAGAT
NP_002515.1:p.Gln61_Glu63delinsHisGluAsp
NM_002524.5:c.183_189delinsCGAAGAT
MANE Select
NP_002515.1:p.Gln61_Glu63delinsHisGluAsp