Canonical Allele Identifier: CA1955551809

Gene: GTF2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18336058_18336061delinsTTTG , CM000673.2:g.18336058_18336061delinsTTTG	GRCh38
NC_000011.9:g.18357605_18357608delinsTTTG , CM000673.1:g.18357605_18357608delinsTTTG	GRCh37
NC_000011.8:g.18314181_18314184delinsTTTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.347+112_347+115delinsTTTG MANE Select	ENSP00000265963.4:n.347+112_347+115delinsTTTG
ENST00000265963.8:c.347+112_347+115delinsTTTG	ENSP00000265963.4:n.347+112_347+115delinsTTTG
ENST00000418116.6:n.546+112_546+115delinsTTTG
ENST00000453096.6:c.347+112_347+115delinsTTTG	ENSP00000393638.2:n.347+112_347+115delinsTTTG
ENST00000534641.5:c.-1-2051_-1-2048delinsTTTG	ENSP00000435375.1:n.-1-2051_-1-2048delinsTTTG
ENST00000543932.5:n.760+112_760+115delinsTTTG
NM_001142307.1:c.347+112_347+115delinsTTTG	NP_001135779.1:n.347+112_347+115delinsTTTG
NM_005316.3:c.347+112_347+115delinsTTTG	NP_005307.1:n.347+112_347+115delinsTTTG
XM_006718208.2:c.347+112_347+115delinsTTTG	XP_006718271.1:n.347+112_347+115delinsTTTG
XM_006718208.3:c.347+112_347+115delinsTTTG	XP_006718271.1:n.347+112_347+115delinsTTTG
XM_024448457.1:c.347+112_347+115delinsTTTG	XP_024304225.1:n.347+112_347+115delinsTTTG
XM_024448458.1:c.347+112_347+115delinsTTTG	XP_024304226.1:n.347+112_347+115delinsTTTG
NM_005316.4:c.347+112_347+115delinsTTTG MANE Select	NP_005307.1:n.347+112_347+115delinsTTTG
NM_001142307.2:c.347+112_347+115delinsTTTG	NP_001135779.1:n.347+112_347+115delinsTTTG