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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_000002.12:g.44942215_44942233delinsTGCGGGAGGCGGCGGCGGC , CM000664.2:g.44942215_44942233delinsTGCGGGAGGCGGCGGCGGC
GRCh38
NC_000002.11:g.45169354_45169372delinsTGCGGGAGGCGGCGGCGGC , CM000664.1:g.45169354_45169372delinsTGCGGGAGGCGGCGGCGGC
GRCh37
NC_000002.10:g.45022858_45022876delinsTGCGGGAGGCGGCGGCGGC
NCBI36
NG_016222.1:g.5318_5336delinsTGCGGGAGGCGGCGGCGGC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000260653.5:c.111_129delinsTGCGGGAGGCGGCGGCGGC
MANE Select
ENSP00000260653.3:p.Gly37=
ENST00000260653.4:c.111_129delinsTGCGGGAGGCGGCGGCGGC
ENSP00000260653.3:p.Gly37=
NM_005413.3:c.111_129delinsTGCGGGAGGCGGCGGCGGC
NP_005404.1:p.Gly37=
XM_011533042.1:c.111_129delinsTGCGGGAGGCGGCGGCGGC
XP_011531344.1:p.Gly37=
NM_005413.4:c.111_129delinsTGCGGGAGGCGGCGGCGGC
MANE Select
NP_005404.1:p.Gly37=