Canonical Allele Identifier: CA645586970

Gene: GEMIN4

Linked Data

• COSMIC: COSM5833367 ; COSM5833368

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745843_745845del , CM000679.2:g.745843_745845del	GRCh38
NC_000017.10:g.649083_649085del , CM000679.1:g.649083_649085del	GRCh37
NC_000017.9:g.595833_595835del	NCBI36
NG_046938.1:g.12028_12030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2198_2200del MANE Select	ENSP00000321706.5:p.Leu733_Glu734delinsGln
ENST00000319004.5:c.2198_2200del	ENSP00000321706.5:p.Leu733_Glu734delinsGln
ENST00000576778.1:c.2165_2167del	ENSP00000459565.1:p.Leu722_Glu723delinsGln
NM_015721.2:c.2198_2200del	NP_056536.2:p.Leu733_Glu734delinsGln
XM_005256667.3:c.2210_2212del	XP_005256724.1:p.Leu737_Glu738delinsGln
XM_005256668.3:c.2210_2212del	XP_005256725.1:p.Leu737_Glu738delinsGln
XM_005256670.3:c.2165_2167del	XP_005256727.1:p.Leu722_Glu723delinsGln
XM_011523910.1:c.2210_2212del	XP_011522212.1:p.Leu737_Glu738delinsGln
XM_011523911.1:c.2210_2212del	XP_011522213.1:p.Leu737_Glu738delinsGln
XM_011523912.1:c.2165_2167del	XP_011522214.1:p.Leu722_Glu723delinsGln
XM_011523913.1:c.2165_2167del	XP_011522215.1:p.Leu722_Glu723delinsGln
XM_005256667.4:c.2210_2212del	XP_005256724.1:p.Leu737_Glu738delinsGln
XM_005256670.5:c.2165_2167del	XP_005256727.1:p.Leu722_Glu723delinsGln
XM_011523910.2:c.2210_2212del	XP_011522212.1:p.Leu737_Glu738delinsGln
XM_011523911.2:c.2210_2212del	XP_011522213.1:p.Leu737_Glu738delinsGln
XM_011523912.2:c.2165_2167del	XP_011522214.1:p.Leu722_Glu723delinsGln
XM_011523913.2:c.2165_2167del	XP_011522215.1:p.Leu722_Glu723delinsGln
XM_017024709.1:c.2210_2212del	XP_016880198.1:p.Leu737_Glu738delinsGln
NM_015721.3:c.2198_2200del MANE Select	NP_056536.2:p.Leu733_Glu734delinsGln