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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.44942197_44942245delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC , CM000664.2:g.44942197_44942245delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC
GRCh38
NC_000002.11:g.45169336_45169384delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC , CM000664.1:g.45169336_45169384delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC
GRCh37
NC_000002.10:g.45022840_45022888delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC
NCBI36
NG_016222.1:g.5300_5348delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC
Transcript Alleles
HGVS
Amino-acid change
ENST00000260653.5:c.93_141delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC
MANE Select
ENSP00000260653.3:p.Ser31=
ENST00000260653.4:c.93_141delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC
ENSP00000260653.3:p.Ser31=
NM_005413.3:c.93_141delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC
NP_005404.1:p.Ser31=
XM_011533042.1:c.93_141delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC
XP_011531344.1:p.Ser31=
NM_005413.4:c.93_141delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC
MANE Select
NP_005404.1:p.Ser31=