Canonical Allele Identifier: CA2580612860
Community Standard Title: NM_020791.4(TAOK1):c.1263_1264dup (p.Pro422LeufsTer?)
Gene: TAOK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29502648_29502649dup , CM000679.2:g.29502648_29502649dup GRCh38
NC_000017.10:g.27829666_27829667dup , CM000679.1:g.27829666_27829667dup GRCh37
NC_000017.9:g.24853792_24853793dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_020791.4:c.1263_1264dup MANE Select NP_065842.1:p.Pro422LeufsTer?
ENST00000261716.8:c.1263_1264dup MANE Select ENSP00000261716.3:p.Pro422LeufsTer?
NM_020791.2:c.1263_1264dup NP_065842.1:p.Pro422LeufsTer?
NM_025142.1:c.1263_1264dup NP_079418.1:p.Pro422LeufsTer?
ENST00000261716.7:c.1263_1264dup ENSP00000261716.3:p.Pro422LeufsTer?
ENST00000536202.1:c.1263_1264dup ENSP00000438819.1:p.Pro422LeufsTer?
ENST00000577583.1:n.1111_1112dup
XM_011525060.1:c.1263_1264dup XP_011523362.1:p.Pro422LeufsTer?
XM_011525060.2:c.1263_1264dup XP_011523362.1:p.Pro422LeufsTer?