Canonical Allele Identifier: CA2242474542

Gene: GEMIN4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.746045_746048delinsCTCT , CM000679.2:g.746045_746048delinsCTCT	GRCh38
NC_000017.10:g.649285_649288delinsCTCT , CM000679.1:g.649285_649288delinsCTCT	GRCh37
NC_000017.9:g.596035_596038delinsCTCT	NCBI36
NG_046938.1:g.11825_11828delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.1995_1998delinsAGAG MANE Select	ENSP00000321706.5:p.Glu665=
ENST00000319004.5:c.1995_1998delinsAGAG	ENSP00000321706.5:p.Glu665=
ENST00000576778.1:c.1962_1965delinsAGAG	ENSP00000459565.1:p.Glu654=
NM_015721.2:c.1995_1998delinsAGAG	NP_056536.2:p.Glu665=
XM_005256667.3:c.2007_2010delinsAGAG	XP_005256724.1:p.Glu669=
XM_005256668.3:c.2007_2010delinsAGAG	XP_005256725.1:p.Glu669=
XM_005256670.3:c.1962_1965delinsAGAG	XP_005256727.1:p.Glu654=
XM_011523910.1:c.2007_2010delinsAGAG	XP_011522212.1:p.Glu669=
XM_011523911.1:c.2007_2010delinsAGAG	XP_011522213.1:p.Glu669=
XM_011523912.1:c.1962_1965delinsAGAG	XP_011522214.1:p.Glu654=
XM_011523913.1:c.1962_1965delinsAGAG	XP_011522215.1:p.Glu654=
XM_005256667.4:c.2007_2010delinsAGAG	XP_005256724.1:p.Glu669=
XM_005256670.5:c.1962_1965delinsAGAG	XP_005256727.1:p.Glu654=
XM_011523910.2:c.2007_2010delinsAGAG	XP_011522212.1:p.Glu669=
XM_011523911.2:c.2007_2010delinsAGAG	XP_011522213.1:p.Glu669=
XM_011523912.2:c.1962_1965delinsAGAG	XP_011522214.1:p.Glu654=
XM_011523913.2:c.1962_1965delinsAGAG	XP_011522215.1:p.Glu654=
XM_017024709.1:c.2007_2010delinsAGAG	XP_016880198.1:p.Glu669=
NM_015721.3:c.1995_1998delinsAGAG MANE Select	NP_056536.2:p.Glu665=