Canonical Allele Identifier: CA2242474551
Gene: GEMIN4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.746066_746067delinsGA , CM000679.2:g.746066_746067delinsGA GRCh38
NC_000017.10:g.649306_649307delinsGA , CM000679.1:g.649306_649307delinsGA GRCh37
NC_000017.9:g.596056_596057delinsGA NCBI36
NG_046938.1:g.11806_11807delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000319004.6:c.1976_1977delinsTC MANE Select ENSP00000321706.5:p.Phe659=
ENST00000319004.5:c.1976_1977delinsTC ENSP00000321706.5:p.Phe659=
ENST00000576778.1:c.1943_1944delinsTC ENSP00000459565.1:p.Phe648=
NM_015721.2:c.1976_1977delinsTC NP_056536.2:p.Phe659=
XM_005256667.3:c.1988_1989delinsTC XP_005256724.1:p.Phe663=
XM_005256668.3:c.1988_1989delinsTC XP_005256725.1:p.Phe663=
XM_005256670.3:c.1943_1944delinsTC XP_005256727.1:p.Phe648=
XM_011523910.1:c.1988_1989delinsTC XP_011522212.1:p.Phe663=
XM_011523911.1:c.1988_1989delinsTC XP_011522213.1:p.Phe663=
XM_011523912.1:c.1943_1944delinsTC XP_011522214.1:p.Phe648=
XM_011523913.1:c.1943_1944delinsTC XP_011522215.1:p.Phe648=
XM_005256667.4:c.1988_1989delinsTC XP_005256724.1:p.Phe663=
XM_005256670.5:c.1943_1944delinsTC XP_005256727.1:p.Phe648=
XM_011523910.2:c.1988_1989delinsTC XP_011522212.1:p.Phe663=
XM_011523911.2:c.1988_1989delinsTC XP_011522213.1:p.Phe663=
XM_011523912.2:c.1943_1944delinsTC XP_011522214.1:p.Phe648=
XM_011523913.2:c.1943_1944delinsTC XP_011522215.1:p.Phe648=
XM_017024709.1:c.1988_1989delinsTC XP_016880198.1:p.Phe663=
NM_015721.3:c.1976_1977delinsTC MANE Select NP_056536.2:p.Phe659=