Canonical Allele Identifier: CA2242474298

Gene: GEMIN4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745535_745537delinsCAA , CM000679.2:g.745535_745537delinsCAA	GRCh38
NC_000017.10:g.648775_648777delinsCAA , CM000679.1:g.648775_648777delinsCAA	GRCh37
NC_000017.9:g.595525_595527delinsCAA	NCBI36
NG_046938.1:g.12336_12338delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.2506_2508delinsTTG MANE Select	ENSP00000321706.5:p.Leu836=
ENST00000319004.5:c.2506_2508delinsTTG	ENSP00000321706.5:p.Leu836=
ENST00000576778.1:c.2473_2475delinsTTG	ENSP00000459565.1:p.Leu825=
NM_015721.2:c.2506_2508delinsTTG	NP_056536.2:p.Leu836=
XM_005256667.3:c.2518_2520delinsTTG	XP_005256724.1:p.Leu840=
XM_005256668.3:c.2518_2520delinsTTG	XP_005256725.1:p.Leu840=
XM_005256670.3:c.2473_2475delinsTTG	XP_005256727.1:p.Leu825=
XM_011523910.1:c.2518_2520delinsTTG	XP_011522212.1:p.Leu840=
XM_011523911.1:c.2518_2520delinsTTG	XP_011522213.1:p.Leu840=
XM_011523912.1:c.2473_2475delinsTTG	XP_011522214.1:p.Leu825=
XM_011523913.1:c.2473_2475delinsTTG	XP_011522215.1:p.Leu825=
XM_005256667.4:c.2518_2520delinsTTG	XP_005256724.1:p.Leu840=
XM_005256670.5:c.2473_2475delinsTTG	XP_005256727.1:p.Leu825=
XM_011523910.2:c.2518_2520delinsTTG	XP_011522212.1:p.Leu840=
XM_011523911.2:c.2518_2520delinsTTG	XP_011522213.1:p.Leu840=
XM_011523912.2:c.2473_2475delinsTTG	XP_011522214.1:p.Leu825=
XM_011523913.2:c.2473_2475delinsTTG	XP_011522215.1:p.Leu825=
XM_017024709.1:c.2518_2520delinsTTG	XP_016880198.1:p.Leu840=
NM_015721.3:c.2506_2508delinsTTG MANE Select	NP_056536.2:p.Leu836=