Canonical Allele Identifier: CA2242474432

Gene: GEMIN4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745827_745829delinsATC , CM000679.2:g.745827_745829delinsATC	GRCh38
NC_000017.10:g.649067_649069delinsATC , CM000679.1:g.649067_649069delinsATC	GRCh37
NC_000017.9:g.595817_595819delinsATC	NCBI36
NG_046938.1:g.12044_12046delinsGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2214_2216delinsGAT MANE Select	ENSP00000321706.5:p.Glu738=
ENST00000319004.5:c.2214_2216delinsGAT	ENSP00000321706.5:p.Glu738=
ENST00000576778.1:c.2181_2183delinsGAT	ENSP00000459565.1:p.Glu727=
NM_015721.2:c.2214_2216delinsGAT	NP_056536.2:p.Glu738=
XM_005256667.3:c.2226_2228delinsGAT	XP_005256724.1:p.Glu742=
XM_005256668.3:c.2226_2228delinsGAT	XP_005256725.1:p.Glu742=
XM_005256670.3:c.2181_2183delinsGAT	XP_005256727.1:p.Glu727=
XM_011523910.1:c.2226_2228delinsGAT	XP_011522212.1:p.Glu742=
XM_011523911.1:c.2226_2228delinsGAT	XP_011522213.1:p.Glu742=
XM_011523912.1:c.2181_2183delinsGAT	XP_011522214.1:p.Glu727=
XM_011523913.1:c.2181_2183delinsGAT	XP_011522215.1:p.Glu727=
XM_005256667.4:c.2226_2228delinsGAT	XP_005256724.1:p.Glu742=
XM_005256670.5:c.2181_2183delinsGAT	XP_005256727.1:p.Glu727=
XM_011523910.2:c.2226_2228delinsGAT	XP_011522212.1:p.Glu742=
XM_011523911.2:c.2226_2228delinsGAT	XP_011522213.1:p.Glu742=
XM_011523912.2:c.2181_2183delinsGAT	XP_011522214.1:p.Glu727=
XM_011523913.2:c.2181_2183delinsGAT	XP_011522215.1:p.Glu727=
XM_017024709.1:c.2226_2228delinsGAT	XP_016880198.1:p.Glu742=
NM_015721.3:c.2214_2216delinsGAT MANE Select	NP_056536.2:p.Glu738=