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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.65077518_65077525delinsGGCGGCAC , CM000677.2:g.65077518_65077525delinsGGCGGCAC
GRCh38
NC_000015.9:g.65369856_65369863delinsGGCGGCAC , CM000677.1:g.65369856_65369863delinsGGCGGCAC
GRCh37
NC_000015.8:g.63156909_63156916delinsGGCGGCAC
NCBI36
NG_021411.1:g.5703_5710delinsGGCGGCAC , LRG_682:g.5703_5710delinsGGCGGCAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000432196.5:c.703_710delinsGGCGGCAC
MANE Select
ENSP00000388723.2:p.Gly235=
ENST00000432196.3:c.703_710delinsGGCGGCAC
ENSP00000388723.2:p.Gly235=
NM_001101362.2:c.703_710delinsGGCGGCAC , LRG_682t1:c.703_710delinsGGCGGCAC
NP_001094832.1:p.Gly235=
NM_001101362.3:c.703_710delinsGGCGGCAC
MANE Select
NP_001094832.1:p.Gly235=