Canonical Allele Identifier: CA1675992813
Gene: GTF2H5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.158191933_158191934delinsAT , CM000668.2:g.158191933_158191934delinsAT GRCh38
NC_000006.11:g.158612965_158612966delinsAT , CM000668.1:g.158612965_158612966delinsAT GRCh37
NC_000006.10:g.158532953_158532954delinsAT NCBI36
NG_011758.1:g.28587_28588delinsAT , LRG_469:g.28587_28588delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000684993.1:n.95-44_95-43delinsAT
ENST00000689018.1:n.41-1277_41-1276delinsAT
ENST00000689809.1:c.36-44_36-43delinsAT ENSP00000510752.1:n.36-44_36-43delinsAT
ENST00000691867.1:c.36-44_36-43delinsAT ENSP00000510706.1:n.36-44_36-43delinsAT
ENST00000607778.2:c.36-44_36-43delinsAT MANE Select ENSP00000476100.1:n.36-44_36-43delinsAT
ENST00000648328.1:c.*1-44_*1-43delinsAT ENSP00000497338.1:n.*1-44_*1-43delinsAT
ENST00000607778.1:c.36-44_36-43delinsAT ENSP00000476100.1:n.36-44_36-43delinsAT
NM_207118.2:c.36-44_36-43delinsAT , LRG_469t1:c.36-44_36-43delinsAT NP_997001.1:n.36-44_36-43delinsAT
XM_017010862.1:c.66-44_66-43delinsAT XP_016866351.1:n.66-44_66-43delinsAT
NM_207118.3:c.36-44_36-43delinsAT MANE Select NP_997001.1:n.36-44_36-43delinsAT