Canonical Allele Identifier: CA2285050375

Gene: IMPA2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12017518_12017519delinsGA , CM000680.2:g.12017518_12017519delinsGA	GRCh38
NC_000018.9:g.12017517_12017518delinsGA , CM000680.1:g.12017517_12017518delinsGA	GRCh37
NC_000018.8:g.12007517_12007518delinsGA	NCBI36
NG_028104.1:g.41063_41064delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269159.8:c.490+3145_490+3146delinsGA MANE Select	ENSP00000269159.3:n.490+3145_490+3146delinsGA
ENST00000269159.7:c.490+3145_490+3146delinsGA	ENSP00000269159.3:n.490+3145_490+3146delinsGA
ENST00000383376.9:c.*492-96_*492-95delinsGA	ENSP00000372867.4:n.*492-96_*492-95delinsGA
ENST00000586230.1:c.212+3145_212+3146delinsGA
ENST00000588167.1:n.243+3145_243+3146delinsGA
ENST00000588752.5:n.575+3145_575+3146delinsGA
ENST00000588927.5:c.-78+3145_-78+3146delinsGA	ENSP00000464767.1:n.-78+3145_-78+3146delinsGA
ENST00000589238.5:c.-78+3145_-78+3146delinsGA	ENSP00000465416.1:n.-78+3145_-78+3146delinsGA
ENST00000590107.5:c.*132+3145_*132+3146delinsGA	ENSP00000466059.1:n.*132+3145_*132+3146delinsGA
ENST00000590138.1:c.*93+3145_*93+3146delinsGA	ENSP00000465938.1:n.*93+3145_*93+3146delinsGA
NM_014214.2:c.490+3145_490+3146delinsGA	NP_055029.1:n.490+3145_490+3146delinsGA
XM_011525659.1:c.442+3145_442+3146delinsGA	XP_011523961.1:n.442+3145_442+3146delinsGA
XM_011525660.1:c.418+3145_418+3146delinsGA	XP_011523962.1:n.418+3145_418+3146delinsGA
XM_011525661.1:c.130+3145_130+3146delinsGA	XP_011523963.1:n.130+3145_130+3146delinsGA
XM_011525659.3:c.442+3145_442+3146delinsGA	XP_011523961.1:n.442+3145_442+3146delinsGA
XM_011525661.3:c.130+3145_130+3146delinsGA	XP_011523963.1:n.130+3145_130+3146delinsGA
NM_014214.3:c.490+3145_490+3146delinsGA MANE Select	NP_055029.1:n.490+3145_490+3146delinsGA