Canonical Allele Identifier: CA1955551770

Gene: GTF2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18335974_18335975delinsAG , CM000673.2:g.18335974_18335975delinsAG	GRCh38
NC_000011.9:g.18357521_18357522delinsAG , CM000673.1:g.18357521_18357522delinsAG	GRCh37
NC_000011.8:g.18314097_18314098delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.347+28_347+29delinsAG MANE Select	ENSP00000265963.4:n.347+28_347+29delinsAG
ENST00000265963.8:c.347+28_347+29delinsAG	ENSP00000265963.4:n.347+28_347+29delinsAG
ENST00000418116.6:n.546+28_546+29delinsAG
ENST00000453096.6:c.347+28_347+29delinsAG	ENSP00000393638.2:n.347+28_347+29delinsAG
ENST00000534641.5:c.-1-2135_-1-2134delinsAG	ENSP00000435375.1:n.-1-2135_-1-2134delinsAG
ENST00000543932.5:n.760+28_760+29delinsAG
NM_001142307.1:c.347+28_347+29delinsAG	NP_001135779.1:n.347+28_347+29delinsAG
NM_005316.3:c.347+28_347+29delinsAG	NP_005307.1:n.347+28_347+29delinsAG
XM_006718208.2:c.347+28_347+29delinsAG	XP_006718271.1:n.347+28_347+29delinsAG
XM_006718208.3:c.347+28_347+29delinsAG	XP_006718271.1:n.347+28_347+29delinsAG
XM_024448457.1:c.347+28_347+29delinsAG	XP_024304225.1:n.347+28_347+29delinsAG
XM_024448458.1:c.347+28_347+29delinsAG	XP_024304226.1:n.347+28_347+29delinsAG
NM_005316.4:c.347+28_347+29delinsAG MANE Select	NP_005307.1:n.347+28_347+29delinsAG
NM_001142307.2:c.347+28_347+29delinsAG	NP_001135779.1:n.347+28_347+29delinsAG