×
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_000020.11:g.45947827dup , CM000682.2:g.45947827dup
GRCh38
NC_000020.10:g.44576466dup , CM000682.1:g.44576466dup
GRCh37
NC_000020.9:g.44009873dup
NCBI36
NG_029772.1:g.29368dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000372409.8:c.*72dup
MANE Select
ENSP00000361486.3:n.*72dup
ENST00000372409.7:c.*72dup
ENSP00000361486.3:n.*72dup
ENST00000479348.2:c.1128dup
NM_022104.3:c.*72dup
NP_071387.1:n.*72dup
XM_011528980.1:c.*72dup
XP_011527282.1:n.*72dup
XM_011528981.1:c.*72dup
XP_011527283.1:n.*72dup
XM_011528982.1:c.*72dup
XP_011527284.1:n.*72dup
XM_011528980.3:c.*72dup
XP_011527282.1:n.*72dup
XM_011528981.3:c.*72dup
XP_011527283.1:n.*72dup
XM_017028013.2:c.*72dup
XP_016883502.1:n.*72dup
XM_017028014.2:c.*72dup
XP_016883503.1:n.*72dup
NM_022104.4:c.*72dup
MANE Select
NP_071387.1:n.*72dup