Canonical Allele Identifier: CA774955099
Gene: GEMIN4 HGNC NCBI

Linked Data

dbSNP Id: rs1339401791

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.745896_745897dup , CM000679.2:g.745896_745897dup GRCh38
NC_000017.10:g.649136_649137dup , CM000679.1:g.649136_649137dup GRCh37
NC_000017.9:g.595886_595887dup NCBI36
NG_046938.1:g.11976_11977dup

Transcript Alleles

HGVS Amino-acid change
ENST00000319004.6:c.2146_2147dup MANE Select ENSP00000321706.5:p.Glu717ArgfsTer13
ENST00000319004.5:c.2146_2147dup ENSP00000321706.5:p.Glu717ArgfsTer13
ENST00000576778.1:c.2113_2114dup ENSP00000459565.1:p.Glu706ArgfsTer13
NM_015721.2:c.2146_2147dup NP_056536.2:p.Glu717ArgfsTer13
XM_005256667.3:c.2158_2159dup XP_005256724.1:p.Glu721ArgfsTer13
XM_005256668.3:c.2158_2159dup XP_005256725.1:p.Glu721ArgfsTer13
XM_005256670.3:c.2113_2114dup XP_005256727.1:p.Glu706ArgfsTer13
XM_011523910.1:c.2158_2159dup XP_011522212.1:p.Glu721ArgfsTer13
XM_011523911.1:c.2158_2159dup XP_011522213.1:p.Glu721ArgfsTer13
XM_011523912.1:c.2113_2114dup XP_011522214.1:p.Glu706ArgfsTer13
XM_011523913.1:c.2113_2114dup XP_011522215.1:p.Glu706ArgfsTer13
XM_005256667.4:c.2158_2159dup XP_005256724.1:p.Glu721ArgfsTer13
XM_005256670.5:c.2113_2114dup XP_005256727.1:p.Glu706ArgfsTer13
XM_011523910.2:c.2158_2159dup XP_011522212.1:p.Glu721ArgfsTer13
XM_011523911.2:c.2158_2159dup XP_011522213.1:p.Glu721ArgfsTer13
XM_011523912.2:c.2113_2114dup XP_011522214.1:p.Glu706ArgfsTer13
XM_011523913.2:c.2113_2114dup XP_011522215.1:p.Glu706ArgfsTer13
XM_017024709.1:c.2158_2159dup XP_016880198.1:p.Glu721ArgfsTer13
NM_015721.3:c.2146_2147dup MANE Select NP_056536.2:p.Glu717ArgfsTer13