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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_000020.11:g.33408428dup , CM000682.2:g.33408428dup
GRCh38
NC_000020.10:g.31996234dup , CM000682.1:g.31996234dup
GRCh37
NC_000020.9:g.31459895dup
NCBI36
NG_011622.1:g.40468dup , LRG_332:g.40468dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000217381.3:c.*82dup
MANE Select
ENSP00000217381.2:n.*82dup
ENST00000217381.2:c.*82dup
ENSP00000217381.2:n.*82dup
NM_003098.2:c.*82dup , LRG_332t1:c.*82dup
NP_003089.1:n.*82dup
XM_005260517.1:c.*82dup
XP_005260574.1:n.*82dup
XM_011529007.1:c.*141dup
XP_011527309.1:n.*141dup
XM_011529008.1:c.*141dup
XP_011527310.1:n.*141dup
XR_936612.1:n.1636dup
XM_024451971.1:c.*82dup
XP_024307739.1:n.*82dup
NM_003098.3:c.*82dup
MANE Select
NP_003089.1:n.*82dup