Canonical Allele Identifier: CA8262594

Gene: GEMIN4

Linked Data

• dbSNP Id: rs760016754
• ExAC: 17:649649 GC / G
• gnomAD v2: 17-649649-GC-G
• gnomAD v4: 17-746409-GC-G
• MyVariant Identifiers: chr17:g.649650del (hg19) ; chr17:g.746410del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.746410del , CM000679.2:g.746410del	GRCh38
NC_000017.10:g.649650del , CM000679.1:g.649650del	GRCh37
NC_000017.9:g.596400del	NCBI36
NG_046938.1:g.11463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319004.6:c.1633del MANE Select	ENSP00000321706.5:p.Ala545LeufsTer10
ENST00000319004.5:c.1633del	ENSP00000321706.5:p.Ala545LeufsTer10
ENST00000576778.1:c.1600del	ENSP00000459565.1:p.Ala534LeufsTer10
NM_015721.2:c.1633del	NP_056536.2:p.Ala545LeufsTer10
XM_005256667.3:c.1645del	XP_005256724.1:p.Ala549LeufsTer10
XM_005256668.3:c.1645del	XP_005256725.1:p.Ala549LeufsTer10
XM_005256670.3:c.1600del	XP_005256727.1:p.Ala534LeufsTer10
XM_011523910.1:c.1645del	XP_011522212.1:p.Ala549LeufsTer10
XM_011523911.1:c.1645del	XP_011522213.1:p.Ala549LeufsTer10
XM_011523912.1:c.1600del	XP_011522214.1:p.Ala534LeufsTer10
XM_011523913.1:c.1600del	XP_011522215.1:p.Ala534LeufsTer10
XM_005256667.4:c.1645del	XP_005256724.1:p.Ala549LeufsTer10
XM_005256670.5:c.1600del	XP_005256727.1:p.Ala534LeufsTer10
XM_011523910.2:c.1645del	XP_011522212.1:p.Ala549LeufsTer10
XM_011523911.2:c.1645del	XP_011522213.1:p.Ala549LeufsTer10
XM_011523912.2:c.1600del	XP_011522214.1:p.Ala534LeufsTer10
XM_011523913.2:c.1600del	XP_011522215.1:p.Ala534LeufsTer10
XM_017024709.1:c.1645del	XP_016880198.1:p.Ala549LeufsTer10
NM_015721.3:c.1633del MANE Select	NP_056536.2:p.Ala545LeufsTer10