Canonical Allele Identifier: CA2242474567

Gene: GEMIN4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.746104_746107delinsCAAG , CM000679.2:g.746104_746107delinsCAAG	GRCh38
NC_000017.10:g.649344_649347delinsCAAG , CM000679.1:g.649344_649347delinsCAAG	GRCh37
NC_000017.9:g.596094_596097delinsCAAG	NCBI36
NG_046938.1:g.11766_11769delinsCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.1936_1939delinsCTTG MANE Select	ENSP00000321706.5:p.Leu646=
ENST00000319004.5:c.1936_1939delinsCTTG	ENSP00000321706.5:p.Leu646=
ENST00000576778.1:c.1903_1906delinsCTTG	ENSP00000459565.1:p.Leu635=
NM_015721.2:c.1936_1939delinsCTTG	NP_056536.2:p.Leu646=
XM_005256667.3:c.1948_1951delinsCTTG	XP_005256724.1:p.Leu650=
XM_005256668.3:c.1948_1951delinsCTTG	XP_005256725.1:p.Leu650=
XM_005256670.3:c.1903_1906delinsCTTG	XP_005256727.1:p.Leu635=
XM_011523910.1:c.1948_1951delinsCTTG	XP_011522212.1:p.Leu650=
XM_011523911.1:c.1948_1951delinsCTTG	XP_011522213.1:p.Leu650=
XM_011523912.1:c.1903_1906delinsCTTG	XP_011522214.1:p.Leu635=
XM_011523913.1:c.1903_1906delinsCTTG	XP_011522215.1:p.Leu635=
XM_005256667.4:c.1948_1951delinsCTTG	XP_005256724.1:p.Leu650=
XM_005256670.5:c.1903_1906delinsCTTG	XP_005256727.1:p.Leu635=
XM_011523910.2:c.1948_1951delinsCTTG	XP_011522212.1:p.Leu650=
XM_011523911.2:c.1948_1951delinsCTTG	XP_011522213.1:p.Leu650=
XM_011523912.2:c.1903_1906delinsCTTG	XP_011522214.1:p.Leu635=
XM_011523913.2:c.1903_1906delinsCTTG	XP_011522215.1:p.Leu635=
XM_017024709.1:c.1948_1951delinsCTTG	XP_016880198.1:p.Leu650=
NM_015721.3:c.1936_1939delinsCTTG MANE Select	NP_056536.2:p.Leu646=