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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_000011.10:g.13388168del , CM000673.2:g.13388168del
GRCh38
NC_000011.9:g.13409715del , CM000673.1:g.13409715del
GRCh37
NC_000011.8:g.13366291del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000278174.10:c.*664del
MANE Select
ENSP00000278174.5:n.*664del
ENST00000278174.9:c.*664del
ENSP00000278174.5:n.*664del
ENST00000527102.6:c.*1394del
ENSP00000435303.2:n.*1394del
NM_001297741.1:c.*664del
NP_001284670.1:n.*664del
NM_001297742.1:c.*664del
NP_001284671.1:n.*664del
NM_032320.6:c.*664del
NP_115696.2:n.*664del
XM_011520404.1:c.*664del
XP_011518706.1:n.*664del
XM_017018405.1:c.*664del
XP_016873894.1:n.*664del
XM_017018406.2:c.*664del
XP_016873895.1:n.*664del
XM_017018409.1:c.*664del
XP_016873898.1:n.*664del
XM_017018410.1:c.*664del
XP_016873899.1:n.*664del
XM_017018411.1:c.*664del
XP_016873900.1:n.*664del
XM_024448712.1:c.*664del
XP_024304480.1:n.*664del
XM_024448713.1:c.*664del
XP_024304481.1:n.*664del
XR_001748000.2:n.3453del
XR_001748001.2:n.2433del
XR_001748002.2:n.2288del
NM_001297741.2:c.*664del
NP_001284670.1:n.*664del
NM_001297742.2:c.*664del
NP_001284671.1:n.*664del
NM_032320.7:c.*664del
MANE Select
NP_115696.2:n.*664del