Canonical Allele Identifier: CA2285050222

Gene: IMPA2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12017197_12017201delinsTACAC , CM000680.2:g.12017197_12017201delinsTACAC	GRCh38
NC_000018.9:g.12017196_12017200delinsTACAC , CM000680.1:g.12017196_12017200delinsTACAC	GRCh37
NC_000018.8:g.12007196_12007200delinsTACAC	NCBI36
NG_028104.1:g.40742_40746delinsTACAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000269159.8:c.490+2824_490+2828delinsTACAC MANE Select	ENSP00000269159.3:n.490+2824_490+2828delinsTACAC
ENST00000269159.7:c.490+2824_490+2828delinsTACAC	ENSP00000269159.3:n.490+2824_490+2828delinsTACAC
ENST00000383376.9:c.*492-417_*492-413delinsTACAC	ENSP00000372867.4:n.*492-417_*492-413delinsTACAC
ENST00000586230.1:c.212+2824_212+2828delinsTACAC
ENST00000588167.1:n.243+2824_243+2828delinsTACAC
ENST00000588752.5:n.575+2824_575+2828delinsTACAC
ENST00000588927.5:c.-78+2824_-78+2828delinsTACAC	ENSP00000464767.1:n.-78+2824_-78+2828delinsTACAC
ENST00000589238.5:c.-78+2824_-78+2828delinsTACAC	ENSP00000465416.1:n.-78+2824_-78+2828delinsTACAC
ENST00000590107.5:c.*132+2824_*132+2828delinsTACAC	ENSP00000466059.1:n.*132+2824_*132+2828delinsTACAC
ENST00000590138.1:c.*93+2824_*93+2828delinsTACAC	ENSP00000465938.1:n.*93+2824_*93+2828delinsTACAC
NM_014214.2:c.490+2824_490+2828delinsTACAC	NP_055029.1:n.490+2824_490+2828delinsTACAC
XM_011525659.1:c.442+2824_442+2828delinsTACAC	XP_011523961.1:n.442+2824_442+2828delinsTACAC
XM_011525660.1:c.418+2824_418+2828delinsTACAC	XP_011523962.1:n.418+2824_418+2828delinsTACAC
XM_011525661.1:c.130+2824_130+2828delinsTACAC	XP_011523963.1:n.130+2824_130+2828delinsTACAC
XM_011525659.3:c.442+2824_442+2828delinsTACAC	XP_011523961.1:n.442+2824_442+2828delinsTACAC
XM_011525661.3:c.130+2824_130+2828delinsTACAC	XP_011523963.1:n.130+2824_130+2828delinsTACAC
NM_014214.3:c.490+2824_490+2828delinsTACAC MANE Select	NP_055029.1:n.490+2824_490+2828delinsTACAC