Canonical Allele Identifier: CA1675992803

Gene: GTF2H5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.158191919_158191921delinsGTC , CM000668.2:g.158191919_158191921delinsGTC	GRCh38
NC_000006.11:g.158612951_158612953delinsGTC , CM000668.1:g.158612951_158612953delinsGTC	GRCh37
NC_000006.10:g.158532939_158532941delinsGTC	NCBI36
NG_011758.1:g.28573_28575delinsGTC , LRG_469:g.28573_28575delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684993.1:n.95-58_95-56delinsGTC
ENST00000689018.1:n.41-1291_41-1289delinsGTC
ENST00000689809.1:c.36-58_36-56delinsGTC	ENSP00000510752.1:n.36-58_36-56delinsGTC
ENST00000691867.1:c.36-58_36-56delinsGTC	ENSP00000510706.1:n.36-58_36-56delinsGTC
ENST00000607778.2:c.36-58_36-56delinsGTC MANE Select	ENSP00000476100.1:n.36-58_36-56delinsGTC
ENST00000648328.1:c.*1-58_*1-56delinsGTC	ENSP00000497338.1:n.*1-58_*1-56delinsGTC
ENST00000607778.1:c.36-58_36-56delinsGTC	ENSP00000476100.1:n.36-58_36-56delinsGTC
NM_207118.2:c.36-58_36-56delinsGTC , LRG_469t1:c.36-58_36-56delinsGTC	NP_997001.1:n.36-58_36-56delinsGTC
XM_017010862.1:c.66-58_66-56delinsGTC	XP_016866351.1:n.66-58_66-56delinsGTC
NM_207118.3:c.36-58_36-56delinsGTC MANE Select	NP_997001.1:n.36-58_36-56delinsGTC