Canonical Allele Identifier: CA8262381

Gene: GEMIN4

Linked Data

• dbSNP Id: rs754037573
• ExAC: 17:648625 AT / A
• gnomAD v2: 17-648625-AT-A
• gnomAD v4: 17-745385-AT-A
• MyVariant Identifiers: chr17:g.648626del (hg19) ; chr17:g.745386del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745386del , CM000679.2:g.745386del	GRCh38
NC_000017.10:g.648626del , CM000679.1:g.648626del	GRCh37
NC_000017.9:g.595376del	NCBI36
NG_046938.1:g.12487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2657del MANE Select	ENSP00000321706.5:p.His886LeufsTer17
ENST00000319004.5:c.2657del	ENSP00000321706.5:p.His886LeufsTer17
ENST00000576778.1:c.2624del	ENSP00000459565.1:p.His875LeufsTer17
NM_015721.2:c.2657del	NP_056536.2:p.His886LeufsTer17
XM_005256667.3:c.2669del	XP_005256724.1:p.His890LeufsTer17
XM_005256668.3:c.2669del	XP_005256725.1:p.His890LeufsTer17
XM_005256670.3:c.2624del	XP_005256727.1:p.His875LeufsTer17
XM_011523910.1:c.2669del	XP_011522212.1:p.His890LeufsTer17
XM_011523911.1:c.2669del	XP_011522213.1:p.His890LeufsTer17
XM_011523912.1:c.2624del	XP_011522214.1:p.His875LeufsTer17
XM_011523913.1:c.2624del	XP_011522215.1:p.His875LeufsTer17
XM_005256667.4:c.2669del	XP_005256724.1:p.His890LeufsTer17
XM_005256670.5:c.2624del	XP_005256727.1:p.His875LeufsTer17
XM_011523910.2:c.2669del	XP_011522212.1:p.His890LeufsTer17
XM_011523911.2:c.2669del	XP_011522213.1:p.His890LeufsTer17
XM_011523912.2:c.2624del	XP_011522214.1:p.His875LeufsTer17
XM_011523913.2:c.2624del	XP_011522215.1:p.His875LeufsTer17
XM_017024709.1:c.2669del	XP_016880198.1:p.His890LeufsTer17
NM_015721.3:c.2657del MANE Select	NP_056536.2:p.His886LeufsTer17