Canonical Allele Identifier: CA2635153312

Gene: GEMIN4

Linked Data

• gnomAD v4: 17-746080-A-ATTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.746084_746087dup , CM000679.2:g.746084_746087dup	GRCh38
NC_000017.10:g.649324_649327dup , CM000679.1:g.649324_649327dup	GRCh37
NC_000017.9:g.596074_596077dup	NCBI36
NG_046938.1:g.11789_11792dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.1959_1962dup MANE Select	ENSP00000321706.5:p.Phe655GlyfsTer12
ENST00000319004.5:c.1959_1962dup	ENSP00000321706.5:p.Phe655GlyfsTer12
ENST00000576778.1:c.1926_1929dup	ENSP00000459565.1:p.Phe644GlyfsTer12
NM_015721.2:c.1959_1962dup	NP_056536.2:p.Phe655GlyfsTer12
XM_005256667.3:c.1971_1974dup	XP_005256724.1:p.Phe659GlyfsTer12
XM_005256668.3:c.1971_1974dup	XP_005256725.1:p.Phe659GlyfsTer12
XM_005256670.3:c.1926_1929dup	XP_005256727.1:p.Phe644GlyfsTer12
XM_011523910.1:c.1971_1974dup	XP_011522212.1:p.Phe659GlyfsTer12
XM_011523911.1:c.1971_1974dup	XP_011522213.1:p.Phe659GlyfsTer12
XM_011523912.1:c.1926_1929dup	XP_011522214.1:p.Phe644GlyfsTer12
XM_011523913.1:c.1926_1929dup	XP_011522215.1:p.Phe644GlyfsTer12
XM_005256667.4:c.1971_1974dup	XP_005256724.1:p.Phe659GlyfsTer12
XM_005256670.5:c.1926_1929dup	XP_005256727.1:p.Phe644GlyfsTer12
XM_011523910.2:c.1971_1974dup	XP_011522212.1:p.Phe659GlyfsTer12
XM_011523911.2:c.1971_1974dup	XP_011522213.1:p.Phe659GlyfsTer12
XM_011523912.2:c.1926_1929dup	XP_011522214.1:p.Phe644GlyfsTer12
XM_011523913.2:c.1926_1929dup	XP_011522215.1:p.Phe644GlyfsTer12
XM_017024709.1:c.1971_1974dup	XP_016880198.1:p.Phe659GlyfsTer12
NM_015721.3:c.1959_1962dup MANE Select	NP_056536.2:p.Phe655GlyfsTer12