Canonical Allele Identifier: CA2635153324

Gene: GEMIN4

Linked Data

• gnomAD v4: 17-746203-T-TGATCCACCCGCCTCGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.746203_746204insGATCCACCCGCCTCGGCC , CM000679.2:g.746203_746204insGATCCACCCGCCTCGGCC	GRCh38
NC_000017.10:g.649443_649444insGATCCACCCGCCTCGGCC , CM000679.1:g.649443_649444insGATCCACCCGCCTCGGCC	GRCh37
NC_000017.9:g.596193_596194insGATCCACCCGCCTCGGCC	NCBI36
NG_046938.1:g.11669_11670insGGCCGAGGCGGGTGGATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.1839_1840insGGCCGAGGCGGGTGGATC MANE Select	ENSP00000321706.5:p.Met613_Lys614insGlyArgGlyGlyTrpIle
ENST00000319004.5:c.1839_1840insGGCCGAGGCGGGTGGATC	ENSP00000321706.5:p.Met613_Lys614insGlyArgGlyGlyTrpIle
ENST00000576778.1:c.1806_1807insGGCCGAGGCGGGTGGATC	ENSP00000459565.1:p.Met602_Lys603insGlyArgGlyGlyTrpIle
NM_015721.2:c.1839_1840insGGCCGAGGCGGGTGGATC	NP_056536.2:p.Met613_Lys614insGlyArgGlyGlyTrpIle
XM_005256667.3:c.1851_1852insGGCCGAGGCGGGTGGATC	XP_005256724.1:p.Met617_Lys618insGlyArgGlyGlyTrpIle
XM_005256668.3:c.1851_1852insGGCCGAGGCGGGTGGATC	XP_005256725.1:p.Met617_Lys618insGlyArgGlyGlyTrpIle
XM_005256670.3:c.1806_1807insGGCCGAGGCGGGTGGATC	XP_005256727.1:p.Met602_Lys603insGlyArgGlyGlyTrpIle
XM_011523910.1:c.1851_1852insGGCCGAGGCGGGTGGATC	XP_011522212.1:p.Met617_Lys618insGlyArgGlyGlyTrpIle
XM_011523911.1:c.1851_1852insGGCCGAGGCGGGTGGATC	XP_011522213.1:p.Met617_Lys618insGlyArgGlyGlyTrpIle
XM_011523912.1:c.1806_1807insGGCCGAGGCGGGTGGATC	XP_011522214.1:p.Met602_Lys603insGlyArgGlyGlyTrpIle
XM_011523913.1:c.1806_1807insGGCCGAGGCGGGTGGATC	XP_011522215.1:p.Met602_Lys603insGlyArgGlyGlyTrpIle
XM_005256667.4:c.1851_1852insGGCCGAGGCGGGTGGATC	XP_005256724.1:p.Met617_Lys618insGlyArgGlyGlyTrpIle
XM_005256670.5:c.1806_1807insGGCCGAGGCGGGTGGATC	XP_005256727.1:p.Met602_Lys603insGlyArgGlyGlyTrpIle
XM_011523910.2:c.1851_1852insGGCCGAGGCGGGTGGATC	XP_011522212.1:p.Met617_Lys618insGlyArgGlyGlyTrpIle
XM_011523911.2:c.1851_1852insGGCCGAGGCGGGTGGATC	XP_011522213.1:p.Met617_Lys618insGlyArgGlyGlyTrpIle
XM_011523912.2:c.1806_1807insGGCCGAGGCGGGTGGATC	XP_011522214.1:p.Met602_Lys603insGlyArgGlyGlyTrpIle
XM_011523913.2:c.1806_1807insGGCCGAGGCGGGTGGATC	XP_011522215.1:p.Met602_Lys603insGlyArgGlyGlyTrpIle
XM_017024709.1:c.1851_1852insGGCCGAGGCGGGTGGATC	XP_016880198.1:p.Met617_Lys618insGlyArgGlyGlyTrpIle
NM_015721.3:c.1839_1840insGGCCGAGGCGGGTGGATC MANE Select	NP_056536.2:p.Met613_Lys614insGlyArgGlyGlyTrpIle