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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.73322784_73322802delinsTCTGCGGAGAGTCTGCGCC , CM000677.2:g.73322784_73322802delinsTCTGCGGAGAGTCTGCGCC
GRCh38
NC_000015.9:g.73615125_73615143delinsTCTGCGGAGAGTCTGCGCC , CM000677.1:g.73615125_73615143delinsTCTGCGGAGAGTCTGCGCC
GRCh37
NC_000015.8:g.71402178_71402196delinsTCTGCGGAGAGTCTGCGCC
NCBI36
NG_009063.1:g.51463_51481delinsGGCGCAGACTCTCCGCAGA
Transcript Alleles
HGVS
Amino-acid change
ENST00000261917.4:c.3291_3309delinsGGCGCAGACTCTCCGCAGA
MANE Select
ENSP00000261917.3:p.Gly1097=
ENST00000261917.3:c.3291_3309delinsGGCGCAGACTCTCCGCAGA
ENSP00000261917.3:p.Gly1097=
NM_005477.2:c.3291_3309delinsGGCGCAGACTCTCCGCAGA
NP_005468.1:p.Gly1097=
XM_011521148.1:c.2073_2091delinsGGCGCAGACTCTCCGCAGA
XP_011519450.1:p.Gly691=
XM_011521148.2:c.2073_2091delinsGGCGCAGACTCTCCGCAGA
XP_011519450.1:p.Gly691=
NM_005477.3:c.3291_3309delinsGGCGCAGACTCTCCGCAGA
MANE Select
NP_005468.1:p.Gly1097=