Canonical Allele Identifier: CA3000235892

Gene: GEMIN4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745899_745900insATAG , CM000679.2:g.745899_745900insATAG	GRCh38
NC_000017.10:g.649139_649140insATAG , CM000679.1:g.649139_649140insATAG	GRCh37
NC_000017.9:g.595889_595890insATAG	NCBI36
NG_046938.1:g.11974_11975insTATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2144_2145insTATC MANE Select	ENSP00000321706.5:p.Lys716IlefsTer11
ENST00000319004.5:c.2144_2145insTATC	ENSP00000321706.5:p.Lys716IlefsTer11
ENST00000576778.1:c.2111_2112insTATC	ENSP00000459565.1:p.Lys705IlefsTer11
NM_015721.2:c.2144_2145insTATC	NP_056536.2:p.Lys716IlefsTer11
XM_005256667.3:c.2156_2157insTATC	XP_005256724.1:p.Lys720IlefsTer11
XM_005256668.3:c.2156_2157insTATC	XP_005256725.1:p.Lys720IlefsTer11
XM_005256670.3:c.2111_2112insTATC	XP_005256727.1:p.Lys705IlefsTer11
XM_011523910.1:c.2156_2157insTATC	XP_011522212.1:p.Lys720IlefsTer11
XM_011523911.1:c.2156_2157insTATC	XP_011522213.1:p.Lys720IlefsTer11
XM_011523912.1:c.2111_2112insTATC	XP_011522214.1:p.Lys705IlefsTer11
XM_011523913.1:c.2111_2112insTATC	XP_011522215.1:p.Lys705IlefsTer11
XM_005256667.4:c.2156_2157insTATC	XP_005256724.1:p.Lys720IlefsTer11
XM_005256670.5:c.2111_2112insTATC	XP_005256727.1:p.Lys705IlefsTer11
XM_011523910.2:c.2156_2157insTATC	XP_011522212.1:p.Lys720IlefsTer11
XM_011523911.2:c.2156_2157insTATC	XP_011522213.1:p.Lys720IlefsTer11
XM_011523912.2:c.2111_2112insTATC	XP_011522214.1:p.Lys705IlefsTer11
XM_011523913.2:c.2111_2112insTATC	XP_011522215.1:p.Lys705IlefsTer11
XM_017024709.1:c.2156_2157insTATC	XP_016880198.1:p.Lys720IlefsTer11
NM_015721.3:c.2144_2145insTATC MANE Select	NP_056536.2:p.Lys716IlefsTer11