Canonical Allele Identifier: CA2635152492

Gene: GEMIN4

Linked Data

• gnomAD v4: 17-745449-CTGCACCAAGGCATGACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745457_745473del , CM000679.2:g.745457_745473del	GRCh38
NC_000017.10:g.648697_648713del , CM000679.1:g.648697_648713del	GRCh37
NC_000017.9:g.595447_595463del	NCBI36
NG_046938.1:g.12407_12423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2577_2593del MANE Select	ENSP00000321706.5:p.Val860ProfsTer25
ENST00000319004.5:c.2577_2593del	ENSP00000321706.5:p.Val860ProfsTer25
ENST00000576778.1:c.2544_2560del	ENSP00000459565.1:p.Val849ProfsTer25
NM_015721.2:c.2577_2593del	NP_056536.2:p.Val860ProfsTer25
XM_005256667.3:c.2589_2605del	XP_005256724.1:p.Val864ProfsTer25
XM_005256668.3:c.2589_2605del	XP_005256725.1:p.Val864ProfsTer25
XM_005256670.3:c.2544_2560del	XP_005256727.1:p.Val849ProfsTer25
XM_011523910.1:c.2589_2605del	XP_011522212.1:p.Val864ProfsTer25
XM_011523911.1:c.2589_2605del	XP_011522213.1:p.Val864ProfsTer25
XM_011523912.1:c.2544_2560del	XP_011522214.1:p.Val849ProfsTer25
XM_011523913.1:c.2544_2560del	XP_011522215.1:p.Val849ProfsTer25
XM_005256667.4:c.2589_2605del	XP_005256724.1:p.Val864ProfsTer25
XM_005256670.5:c.2544_2560del	XP_005256727.1:p.Val849ProfsTer25
XM_011523910.2:c.2589_2605del	XP_011522212.1:p.Val864ProfsTer25
XM_011523911.2:c.2589_2605del	XP_011522213.1:p.Val864ProfsTer25
XM_011523912.2:c.2544_2560del	XP_011522214.1:p.Val849ProfsTer25
XM_011523913.2:c.2544_2560del	XP_011522215.1:p.Val849ProfsTer25
XM_017024709.1:c.2589_2605del	XP_016880198.1:p.Val864ProfsTer25
NM_015721.3:c.2577_2593del MANE Select	NP_056536.2:p.Val860ProfsTer25