Canonical Allele Identifier: CA2530003399

Gene: GTF2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18335681_18335682insAAA , CM000673.2:g.18335681_18335682insAAA	GRCh38
NC_000011.9:g.18357228_18357229insAAA , CM000673.1:g.18357228_18357229insAAA	GRCh37
NC_000011.8:g.18313804_18313805insAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.155-73_155-72insAAA MANE Select	ENSP00000265963.4:n.155-73_155-72insAAA
ENST00000265963.8:c.155-73_155-72insAAA	ENSP00000265963.4:n.155-73_155-72insAAA
ENST00000418116.6:n.354-73_354-72insAAA
ENST00000453096.6:c.155-73_155-72insAAA	ENSP00000393638.2:n.155-73_155-72insAAA
ENST00000525831.5:c.155-73_155-72insAAA	ENSP00000431481.1:n.155-73_155-72insAAA
ENST00000531757.5:n.425-73_425-72insAAA
ENST00000534641.5:c.-1-2428_-1-2427insAAA	ENSP00000435375.1:n.-1-2428_-1-2427insAAA
ENST00000543932.5:n.568-73_568-72insAAA
NM_001142307.1:c.155-73_155-72insAAA	NP_001135779.1:n.155-73_155-72insAAA
NM_005316.3:c.155-73_155-72insAAA	NP_005307.1:n.155-73_155-72insAAA
XM_006718208.2:c.155-73_155-72insAAA	XP_006718271.1:n.155-73_155-72insAAA
XM_006718208.3:c.155-73_155-72insAAA	XP_006718271.1:n.155-73_155-72insAAA
XM_024448457.1:c.155-73_155-72insAAA	XP_024304225.1:n.155-73_155-72insAAA
XM_024448458.1:c.155-73_155-72insAAA	XP_024304226.1:n.155-73_155-72insAAA
NM_005316.4:c.155-73_155-72insAAA MANE Select	NP_005307.1:n.155-73_155-72insAAA
NM_001142307.2:c.155-73_155-72insAAA	NP_001135779.1:n.155-73_155-72insAAA