Canonical Allele Identifier: CA2242474433

Gene: GEMIN4

Linked Data

• dbSNP Id: rs1974378372
• gnomAD v4: 17-745827-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745830_745831del , CM000679.2:g.745830_745831del	GRCh38
NC_000017.10:g.649070_649071del , CM000679.1:g.649070_649071del	GRCh37
NC_000017.9:g.595820_595821del	NCBI36
NG_046938.1:g.12044_12045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2214_2215del MANE Select	ENSP00000321706.5:p.Glu738AspfsTer7
ENST00000319004.5:c.2214_2215del	ENSP00000321706.5:p.Glu738AspfsTer7
ENST00000576778.1:c.2181_2182del	ENSP00000459565.1:p.Glu727AspfsTer7
NM_015721.2:c.2214_2215del	NP_056536.2:p.Glu738AspfsTer7
XM_005256667.3:c.2226_2227del	XP_005256724.1:p.Glu742AspfsTer7
XM_005256668.3:c.2226_2227del	XP_005256725.1:p.Glu742AspfsTer7
XM_005256670.3:c.2181_2182del	XP_005256727.1:p.Glu727AspfsTer7
XM_011523910.1:c.2226_2227del	XP_011522212.1:p.Glu742AspfsTer7
XM_011523911.1:c.2226_2227del	XP_011522213.1:p.Glu742AspfsTer7
XM_011523912.1:c.2181_2182del	XP_011522214.1:p.Glu727AspfsTer7
XM_011523913.1:c.2181_2182del	XP_011522215.1:p.Glu727AspfsTer7
XM_005256667.4:c.2226_2227del	XP_005256724.1:p.Glu742AspfsTer7
XM_005256670.5:c.2181_2182del	XP_005256727.1:p.Glu727AspfsTer7
XM_011523910.2:c.2226_2227del	XP_011522212.1:p.Glu742AspfsTer7
XM_011523911.2:c.2226_2227del	XP_011522213.1:p.Glu742AspfsTer7
XM_011523912.2:c.2181_2182del	XP_011522214.1:p.Glu727AspfsTer7
XM_011523913.2:c.2181_2182del	XP_011522215.1:p.Glu727AspfsTer7
XM_017024709.1:c.2226_2227del	XP_016880198.1:p.Glu742AspfsTer7
NM_015721.3:c.2214_2215del MANE Select	NP_056536.2:p.Glu738AspfsTer7