Canonical Allele Identifier: CA8262474

Gene: GEMIN4

Linked Data

• dbSNP Id: rs780008339
• ExAC: 17:649139 G / GACTCC
• gnomAD v2: 17-649139-G-GACTCC
• MyVariant Identifiers: chr17:g.649139_649140insACTCC (hg19) ; chr17:g.745899_745900insACTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.745899_745900insACTCC , CM000679.2:g.745899_745900insACTCC	GRCh38
NC_000017.10:g.649139_649140insACTCC , CM000679.1:g.649139_649140insACTCC	GRCh37
NC_000017.9:g.595889_595890insACTCC	NCBI36
NG_046938.1:g.11973_11974insGGAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000319004.6:c.2143_2144insGGAGT MANE Select	ENSP00000321706.5:p.Pro715ArgfsTer16
ENST00000319004.5:c.2143_2144insGGAGT	ENSP00000321706.5:p.Pro715ArgfsTer16
ENST00000576778.1:c.2110_2111insGGAGT	ENSP00000459565.1:p.Pro704ArgfsTer16
NM_015721.2:c.2143_2144insGGAGT	NP_056536.2:p.Pro715ArgfsTer16
XM_005256667.3:c.2155_2156insGGAGT	XP_005256724.1:p.Pro719ArgfsTer16
XM_005256668.3:c.2155_2156insGGAGT	XP_005256725.1:p.Pro719ArgfsTer16
XM_005256670.3:c.2110_2111insGGAGT	XP_005256727.1:p.Pro704ArgfsTer16
XM_011523910.1:c.2155_2156insGGAGT	XP_011522212.1:p.Pro719ArgfsTer16
XM_011523911.1:c.2155_2156insGGAGT	XP_011522213.1:p.Pro719ArgfsTer16
XM_011523912.1:c.2110_2111insGGAGT	XP_011522214.1:p.Pro704ArgfsTer16
XM_011523913.1:c.2110_2111insGGAGT	XP_011522215.1:p.Pro704ArgfsTer16
XM_005256667.4:c.2155_2156insGGAGT	XP_005256724.1:p.Pro719ArgfsTer16
XM_005256670.5:c.2110_2111insGGAGT	XP_005256727.1:p.Pro704ArgfsTer16
XM_011523910.2:c.2155_2156insGGAGT	XP_011522212.1:p.Pro719ArgfsTer16
XM_011523911.2:c.2155_2156insGGAGT	XP_011522213.1:p.Pro719ArgfsTer16
XM_011523912.2:c.2110_2111insGGAGT	XP_011522214.1:p.Pro704ArgfsTer16
XM_011523913.2:c.2110_2111insGGAGT	XP_011522215.1:p.Pro704ArgfsTer16
XM_017024709.1:c.2155_2156insGGAGT	XP_016880198.1:p.Pro719ArgfsTer16
NM_015721.3:c.2143_2144insGGAGT MANE Select	NP_056536.2:p.Pro715ArgfsTer16