Canonical Allele Identifier: CA2242474609

Gene: GEMIN4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.746214_746218delinsGTTTC , CM000679.2:g.746214_746218delinsGTTTC	GRCh38
NC_000017.10:g.649454_649458delinsGTTTC , CM000679.1:g.649454_649458delinsGTTTC	GRCh37
NC_000017.9:g.596204_596208delinsGTTTC	NCBI36
NG_046938.1:g.11655_11659delinsGAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.1825_1829delinsGAAAC MANE Select	ENSP00000321706.5:p.Glu609=
ENST00000319004.5:c.1825_1829delinsGAAAC	ENSP00000321706.5:p.Glu609=
ENST00000576778.1:c.1792_1796delinsGAAAC	ENSP00000459565.1:p.Glu598=
NM_015721.2:c.1825_1829delinsGAAAC	NP_056536.2:p.Glu609=
XM_005256667.3:c.1837_1841delinsGAAAC	XP_005256724.1:p.Glu613=
XM_005256668.3:c.1837_1841delinsGAAAC	XP_005256725.1:p.Glu613=
XM_005256670.3:c.1792_1796delinsGAAAC	XP_005256727.1:p.Glu598=
XM_011523910.1:c.1837_1841delinsGAAAC	XP_011522212.1:p.Glu613=
XM_011523911.1:c.1837_1841delinsGAAAC	XP_011522213.1:p.Glu613=
XM_011523912.1:c.1792_1796delinsGAAAC	XP_011522214.1:p.Glu598=
XM_011523913.1:c.1792_1796delinsGAAAC	XP_011522215.1:p.Glu598=
XM_005256667.4:c.1837_1841delinsGAAAC	XP_005256724.1:p.Glu613=
XM_005256670.5:c.1792_1796delinsGAAAC	XP_005256727.1:p.Glu598=
XM_011523910.2:c.1837_1841delinsGAAAC	XP_011522212.1:p.Glu613=
XM_011523911.2:c.1837_1841delinsGAAAC	XP_011522213.1:p.Glu613=
XM_011523912.2:c.1792_1796delinsGAAAC	XP_011522214.1:p.Glu598=
XM_011523913.2:c.1792_1796delinsGAAAC	XP_011522215.1:p.Glu598=
XM_017024709.1:c.1837_1841delinsGAAAC	XP_016880198.1:p.Glu613=
NM_015721.3:c.1825_1829delinsGAAAC MANE Select	NP_056536.2:p.Glu609=