Canonical Allele Identifier: CA2285050221

Gene: IMPA2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12017193_12017197delinsGACAT , CM000680.2:g.12017193_12017197delinsGACAT	GRCh38
NC_000018.9:g.12017192_12017196delinsGACAT , CM000680.1:g.12017192_12017196delinsGACAT	GRCh37
NC_000018.8:g.12007192_12007196delinsGACAT	NCBI36
NG_028104.1:g.40738_40742delinsGACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269159.8:c.490+2820_490+2824delinsGACAT MANE Select	ENSP00000269159.3:n.490+2820_490+2824delinsGACAT
ENST00000269159.7:c.490+2820_490+2824delinsGACAT	ENSP00000269159.3:n.490+2820_490+2824delinsGACAT
ENST00000383376.9:c.*492-421_*492-417delinsGACAT	ENSP00000372867.4:n.*492-421_*492-417delinsGACAT
ENST00000586230.1:c.212+2820_212+2824delinsGACAT
ENST00000588167.1:n.243+2820_243+2824delinsGACAT
ENST00000588752.5:n.575+2820_575+2824delinsGACAT
ENST00000588927.5:c.-78+2820_-78+2824delinsGACAT	ENSP00000464767.1:n.-78+2820_-78+2824delinsGACAT
ENST00000589238.5:c.-78+2820_-78+2824delinsGACAT	ENSP00000465416.1:n.-78+2820_-78+2824delinsGACAT
ENST00000590107.5:c.*132+2820_*132+2824delinsGACAT	ENSP00000466059.1:n.*132+2820_*132+2824delinsGACAT
ENST00000590138.1:c.*93+2820_*93+2824delinsGACAT	ENSP00000465938.1:n.*93+2820_*93+2824delinsGACAT
NM_014214.2:c.490+2820_490+2824delinsGACAT	NP_055029.1:n.490+2820_490+2824delinsGACAT
XM_011525659.1:c.442+2820_442+2824delinsGACAT	XP_011523961.1:n.442+2820_442+2824delinsGACAT
XM_011525660.1:c.418+2820_418+2824delinsGACAT	XP_011523962.1:n.418+2820_418+2824delinsGACAT
XM_011525661.1:c.130+2820_130+2824delinsGACAT	XP_011523963.1:n.130+2820_130+2824delinsGACAT
XM_011525659.3:c.442+2820_442+2824delinsGACAT	XP_011523961.1:n.442+2820_442+2824delinsGACAT
XM_011525661.3:c.130+2820_130+2824delinsGACAT	XP_011523963.1:n.130+2820_130+2824delinsGACAT
NM_014214.3:c.490+2820_490+2824delinsGACAT MANE Select	NP_055029.1:n.490+2820_490+2824delinsGACAT