Canonical Allele Identifier: CA2285050326

Gene: IMPA2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12017419_12017420delinsTC , CM000680.2:g.12017419_12017420delinsTC	GRCh38
NC_000018.9:g.12017418_12017419delinsTC , CM000680.1:g.12017418_12017419delinsTC	GRCh37
NC_000018.8:g.12007418_12007419delinsTC	NCBI36
NG_028104.1:g.40964_40965delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269159.8:c.490+3046_490+3047delinsTC MANE Select	ENSP00000269159.3:n.490+3046_490+3047delinsTC
ENST00000269159.7:c.490+3046_490+3047delinsTC	ENSP00000269159.3:n.490+3046_490+3047delinsTC
ENST00000383376.9:c.*492-195_*492-194delinsTC	ENSP00000372867.4:n.*492-195_*492-194delinsTC
ENST00000586230.1:c.212+3046_212+3047delinsTC
ENST00000588167.1:n.243+3046_243+3047delinsTC
ENST00000588752.5:n.575+3046_575+3047delinsTC
ENST00000588927.5:c.-78+3046_-78+3047delinsTC	ENSP00000464767.1:n.-78+3046_-78+3047delinsTC
ENST00000589238.5:c.-78+3046_-78+3047delinsTC	ENSP00000465416.1:n.-78+3046_-78+3047delinsTC
ENST00000590107.5:c.*132+3046_*132+3047delinsTC	ENSP00000466059.1:n.*132+3046_*132+3047delinsTC
ENST00000590138.1:c.*93+3046_*93+3047delinsTC	ENSP00000465938.1:n.*93+3046_*93+3047delinsTC
NM_014214.2:c.490+3046_490+3047delinsTC	NP_055029.1:n.490+3046_490+3047delinsTC
XM_011525659.1:c.442+3046_442+3047delinsTC	XP_011523961.1:n.442+3046_442+3047delinsTC
XM_011525660.1:c.418+3046_418+3047delinsTC	XP_011523962.1:n.418+3046_418+3047delinsTC
XM_011525661.1:c.130+3046_130+3047delinsTC	XP_011523963.1:n.130+3046_130+3047delinsTC
XM_011525659.3:c.442+3046_442+3047delinsTC	XP_011523961.1:n.442+3046_442+3047delinsTC
XM_011525661.3:c.130+3046_130+3047delinsTC	XP_011523963.1:n.130+3046_130+3047delinsTC
NM_014214.3:c.490+3046_490+3047delinsTC MANE Select	NP_055029.1:n.490+3046_490+3047delinsTC