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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.74754592_74754593delinsAG , CM000677.2:g.74754592_74754593delinsAG
GRCh38
NC_000015.9:g.75046933_75046934delinsAG , CM000677.1:g.75046933_75046934delinsAG
GRCh37
NC_000015.8:g.72833986_72833987delinsAG
NCBI36
NG_008431.1:g.37051_37052delinsAG
NG_008431.2:g.37051_37052delinsAG
NG_061543.1:g.10748_10749delinsAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000343932.5:c.1254-199_1254-198delinsAG
MANE Select
ENSP00000342007.4:n.1254-199_1254-198delinsAG
ENST00000343932.4:c.1254-199_1254-198delinsAG
ENSP00000342007.4:n.1254-199_1254-198delinsAG
NM_000761.4:c.1254-199_1254-198delinsAG
NP_000752.2:n.1254-199_1254-198delinsAG
NM_000761.5:c.1254-199_1254-198delinsAG
MANE Select
NP_000752.2:n.1254-199_1254-198delinsAG