Canonical Allele Identifier: CA980579013

Gene: GEMIN4

Linked Data

• dbSNP Id: rs1974352995
• gnomAD v3: 17-745351-GAACA-G
• gnomAD v4: 17-745351-GAACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745355_745358del , CM000679.2:g.745355_745358del	GRCh38
NC_000017.10:g.648595_648598del , CM000679.1:g.648595_648598del	GRCh37
NC_000017.9:g.595345_595348del	NCBI36
NG_046938.1:g.12518_12521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2688_2691del MANE Select	ENSP00000321706.5:p.Val897ProfsTer5
ENST00000319004.5:c.2688_2691del	ENSP00000321706.5:p.Val897ProfsTer5
ENST00000576778.1:c.2655_2658del	ENSP00000459565.1:p.Val886ProfsTer5
NM_015721.2:c.2688_2691del	NP_056536.2:p.Val897ProfsTer5
XM_005256667.3:c.2700_2703del	XP_005256724.1:p.Val901ProfsTer5
XM_005256668.3:c.2700_2703del	XP_005256725.1:p.Val901ProfsTer5
XM_005256670.3:c.2655_2658del	XP_005256727.1:p.Val886ProfsTer5
XM_011523910.1:c.2700_2703del	XP_011522212.1:p.Val901ProfsTer5
XM_011523911.1:c.2700_2703del	XP_011522213.1:p.Val901ProfsTer5
XM_011523912.1:c.2655_2658del	XP_011522214.1:p.Val886ProfsTer5
XM_011523913.1:c.2655_2658del	XP_011522215.1:p.Val886ProfsTer5
XM_005256667.4:c.2700_2703del	XP_005256724.1:p.Val901ProfsTer5
XM_005256670.5:c.2655_2658del	XP_005256727.1:p.Val886ProfsTer5
XM_011523910.2:c.2700_2703del	XP_011522212.1:p.Val901ProfsTer5
XM_011523911.2:c.2700_2703del	XP_011522213.1:p.Val901ProfsTer5
XM_011523912.2:c.2655_2658del	XP_011522214.1:p.Val886ProfsTer5
XM_011523913.2:c.2655_2658del	XP_011522215.1:p.Val886ProfsTer5
XM_017024709.1:c.2700_2703del	XP_016880198.1:p.Val901ProfsTer5
NM_015721.3:c.2688_2691del MANE Select	NP_056536.2:p.Val897ProfsTer5