Canonical Allele Identifier: CA2758487492
Gene: TF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133757012_133757013insCATTTTGGCAAAGACAAATCAAAAGAAT , CM000665.2:g.133757012_133757013insCATTTTGGCAAAGACAAATCAAAAGAAT GRCh38
NC_000003.11:g.133475856_133475857insCATTTTGGCAAAGACAAATCAAAAGAAT , CM000665.1:g.133475856_133475857insCATTTTGGCAAAGACAAATCAAAAGAAT GRCh37
NC_000003.10:g.134958546_134958547insCATTTTGGCAAAGACAAATCAAAAGAAT NCBI36
NG_013080.1:g.15880_15881insCATTTTGGCAAAGACAAATCAAAAGAAT
NG_013080.2:g.100015_100016insCATTTTGGCAAAGACAAATCAAAAGAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAAT MANE Select ENSP00000385834.3:n.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAA...
ENST00000402696.7:c.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAAT ENSP00000385834.3:n.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAA...
ENST00000485977.1:c.235+3_235+4insCATTTTGGCAAAGACAAATCAAAAGAAT ENSP00000418716.1:n.235+3_235+4insCATTTTGGCAAAGACAAATCAAAAGAA...
NM_001063.3:c.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAAT NP_001054.1:n.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAAT
XM_011513100.1:c.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAAT XP_011511402.1:n.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAAT
NM_001354703.1:c.738+3_738+4insCATTTTGGCAAAGACAAATCAAAAGAAT NP_001341632.1:n.738+3_738+4insCATTTTGGCAAAGACAAATCAAAAGAAT
NM_001354704.1:c.489+3_489+4insCATTTTGGCAAAGACAAATCAAAAGAAT NP_001341633.1:n.489+3_489+4insCATTTTGGCAAAGACAAATCAAAAGAAT
NM_001063.4:c.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAAT MANE Select NP_001054.2:n.870+3_870+4insCATTTTGGCAAAGACAAATCAAAAGAAT
NM_001354703.2:c.738+3_738+4insCATTTTGGCAAAGACAAATCAAAAGAAT NP_001341632.2:n.738+3_738+4insCATTTTGGCAAAGACAAATCAAAAGAAT
NM_001354704.2:c.489+3_489+4insCATTTTGGCAAAGACAAATCAAAAGAAT NP_001341633.2:n.489+3_489+4insCATTTTGGCAAAGACAAATCAAAAGAAT