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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_000006.12:g.1611031_1611082delinsCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACG , CM000668.2:g.1611031_1611082delinsCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACG
GRCh38
NC_000006.11:g.1611266_1611317delinsCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACG , CM000668.1:g.1611266_1611317delinsCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACG
GRCh37
NC_000006.10:g.1556265_1556316delinsCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACG
NCBI36
NG_009368.1:g.5586_5637delinsCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACG
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.586_637delinsCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACG
MANE Select
ENSP00000493906.1:p.Pro196=
ENST00000380874.3:c.586_637delinsCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACG
ENSP00000370256.2:p.Pro196=
NM_001453.2:c.586_637delinsCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACG
NP_001444.2:p.Pro196=
NM_001453.3:c.586_637delinsCCGCCCGGCCGCCAGCCCCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACG
MANE Select
NP_001444.2:p.Pro196=