×
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.1610254_1610276delinsTAGCCCGAGGCGCCGGAGGAGCC , CM000668.2:g.1610254_1610276delinsTAGCCCGAGGCGCCGGAGGAGCC
GRCh38
NC_000006.11:g.1610489_1610511delinsTAGCCCGAGGCGCCGGAGGAGCC , CM000668.1:g.1610489_1610511delinsTAGCCCGAGGCGCCGGAGGAGCC
GRCh37
NC_000006.10:g.1555488_1555510delinsTAGCCCGAGGCGCCGGAGGAGCC
NCBI36
NG_009368.1:g.4809_4831delinsTAGCCCGAGGCGCCGGAGGAGCC
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.-192_-170delinsTAGCCCGAGGCGCCGGAGGAGCC
MANE Select
ENSP00000493906.1:n.-192_-170delinsTAGCCCGAGGCGCCGGAGGAGCC
ENST00000380874.3:c.-192_-170delinsTAGCCCGAGGCGCCGGAGGAGCC
ENSP00000370256.2:n.-192_-170delinsTAGCCCGAGGCGCCGGAGGAGCC
NM_001453.3:c.-192_-170delinsTAGCCCGAGGCGCCGGAGGAGCC
MANE Select
NP_001444.2:n.-192_-170delinsTAGCCCGAGGCGCCGGAGGAGCC