Canonical Allele Identifier: CA2023580680

Gene: ITPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26759848_26759851delinsTATG , CM000674.2:g.26759848_26759851delinsTATG	GRCh38
NC_000012.11:g.26912781_26912784delinsTATG , CM000674.1:g.26912781_26912784delinsTATG	GRCh37
NC_000012.10:g.26804048_26804051delinsTATG	NCBI36
NG_042142.1:g.78348_78351delinsCATA

Transcript Alleles

HGVS	Amino-acid change
ENST00000381340.8:c.163+30306_163+30309delinsCATA MANE Select	ENSP00000370744.3:n.163+30306_163+30309de...
ENST00000242737.5:c.163+30306_163+30309delinsCATA	ENSP00000242737.5:n.163+30306_163+30309de...
ENST00000381340.7:c.163+30306_163+30309delinsCATA	ENSP00000370744.3:n.163+30306_163+30309de...
ENST00000545235.1:c.93-34086_93-34083delinsCATA	ENSP00000440548.1:n.93-34086_93-34083deli...
NM_002223.2:c.163+30306_163+30309delinsCATA	NP_002214.2:n.163+30306_163+30309delinsCA...
NM_002223.3:c.163+30306_163+30309delinsCATA	NP_002214.2:n.163+30306_163+30309delinsCA...
XR_931288.1:n.579+30306_579+30309delinsCATA
XM_017019266.1:c.163+30306_163+30309delinsCATA	XP_016874755.1:n.163+30306_163+30309delin...
XM_017019267.1:c.97+30306_97+30309delinsCATA	XP_016874756.1:n.97+30306_97+30309delinsC...
XM_017019269.2:c.163+30306_163+30309delinsCATA	XP_016874758.1:n.163+30306_163+30309delin...
XR_001748686.2:n.579+30306_579+30309delinsCATA
XR_001748687.1:n.579+30306_579+30309delinsCATA
NM_002223.4:c.163+30306_163+30309delinsCATA MANE Select	NP_002214.2:n.163+30306_163+30309delinsCA...