Canonical Allele Identifier: CA2808150948

Gene: GEMIN4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745891_745892insA , CM000679.2:g.745891_745892insA	GRCh38
NC_000017.10:g.649131_649132insA , CM000679.1:g.649131_649132insA	GRCh37
NC_000017.9:g.595881_595882insA	NCBI36
NG_046938.1:g.11981_11982insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2151_2152insT MANE Select	ENSP00000321706.5:p.Lys718Ter
ENST00000319004.5:c.2151_2152insT	ENSP00000321706.5:p.Lys718Ter
ENST00000576778.1:c.2118_2119insT	ENSP00000459565.1:p.Lys707Ter
NM_015721.2:c.2151_2152insT	NP_056536.2:p.Lys718Ter
XM_005256667.3:c.2163_2164insT	XP_005256724.1:p.Lys722Ter
XM_005256668.3:c.2163_2164insT	XP_005256725.1:p.Lys722Ter
XM_005256670.3:c.2118_2119insT	XP_005256727.1:p.Lys707Ter
XM_011523910.1:c.2163_2164insT	XP_011522212.1:p.Lys722Ter
XM_011523911.1:c.2163_2164insT	XP_011522213.1:p.Lys722Ter
XM_011523912.1:c.2118_2119insT	XP_011522214.1:p.Lys707Ter
XM_011523913.1:c.2118_2119insT	XP_011522215.1:p.Lys707Ter
XM_005256667.4:c.2163_2164insT	XP_005256724.1:p.Lys722Ter
XM_005256670.5:c.2118_2119insT	XP_005256727.1:p.Lys707Ter
XM_011523910.2:c.2163_2164insT	XP_011522212.1:p.Lys722Ter
XM_011523911.2:c.2163_2164insT	XP_011522213.1:p.Lys722Ter
XM_011523912.2:c.2118_2119insT	XP_011522214.1:p.Lys707Ter
XM_011523913.2:c.2118_2119insT	XP_011522215.1:p.Lys707Ter
XM_017024709.1:c.2163_2164insT	XP_016880198.1:p.Lys722Ter
NM_015721.3:c.2151_2152insT MANE Select	NP_056536.2:p.Lys718Ter