Canonical Allele Identifier: CA645535844

Gene: ITPR1

Linked Data

• COSMIC: COSM5457521 ; COSM5457522 ; COSM5457523

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788048_4788049insAG , CM000665.2:g.4788048_4788049insAG	GRCh38
NC_000003.11:g.4829732_4829733insAG , CM000665.1:g.4829732_4829733insAG	GRCh37
NC_000003.10:g.4804732_4804733insAG	NCBI36
NG_016144.1:g.299701_299702insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6728_6729insAG	ENSP00000306253.9:n.6728_6729insAG
ENST00000354582.12:c.6693_6694insAG	ENSP00000346595.8:p.Glu2232ArgfsTer24
ENST00000443694.5:c.6672_6673insAG	ENSP00000401671.2:p.Glu2225ArgfsTer24
ENST00000354582.11:c.6693_6694insAG	ENSP00000346595.8:p.Glu2232ArgfsTer24
ENST00000357086.10:c.6573_6574insAG	ENSP00000349597.4:p.Glu2192ArgfsTer24
ENST00000443694.4:c.6672_6673insAG	ENSP00000401671.2:p.Glu2225ArgfsTer24
ENST00000456211.8:c.6528_6529insAG	ENSP00000397885.2:p.Glu2177ArgfsTer24
ENST00000481415.2:n.609_610insAG
ENST00000544951.6:c.997-18055_997-18054insAG	ENSP00000440564.1:n.997-18055_997-18054insAG
ENST00000647708.1:c.2616_2617insAG
ENST00000647717.1:n.4221_4222insAG
ENST00000648016.1:c.3052_3053insAG
ENST00000648038.1:c.4479_4480insAG	ENSP00000497872.1:p.Glu1494ArgfsTer24
ENST00000648212.1:c.3625_3626insAG
ENST00000648266.1:c.6690_6691insAG	ENSP00000498014.1:p.Glu2231ArgfsTer24
ENST00000648309.1:c.6645_6646insAG	ENSP00000497026.1:p.Glu2216ArgfsTer24
ENST00000648390.1:c.447-58091_447-58090insAG
ENST00000648431.1:c.4019_4020insAG
ENST00000648510.1:n.551_552insAG
ENST00000649015.2:c.6717_6718insAG MANE Select	ENSP00000497605.1:p.Glu2240ArgfsTer24
ENST00000649144.1:n.1765_1766insAG
ENST00000649272.1:n.279_280insAG
ENST00000649694.1:n.4202_4203insAG
ENST00000650294.1:c.6675_6676insAG	ENSP00000498056.1:p.Glu2226ArgfsTer24
ENST00000302640.12:c.6672_6673insAG	ENSP00000306253.8:p.Glu2225ArgfsTer24
ENST00000354582.10:c.6717_6718insAG	ENSP00000346595.7:p.Glu2240ArgfsTer24
ENST00000357086.9:c.6573_6574insAG	ENSP00000349597.4:p.Glu2192ArgfsTer24
ENST00000443694.3:c.6672_6673insAG	ENSP00000401671.2:p.Glu2225ArgfsTer24
ENST00000456211.7:c.6528_6529insAG	ENSP00000397885.2:p.Glu2177ArgfsTer24
ENST00000544951.5:c.997-18055_997-18054insAG	ENSP00000440564.1:n.997-18055_997-18054insAG
NM_001099952.2:c.6573_6574insAG	NP_001093422.2:p.Glu2192ArgfsTer24
NM_001168272.1:c.6672_6673insAG	NP_001161744.1:p.Glu2225ArgfsTer24
NM_002222.5:c.6528_6529insAG	NP_002213.5:p.Glu2177ArgfsTer24
XM_005265109.2:c.6648_6649insAG	XP_005265166.1:p.Glu2217ArgfsTer24
XM_005265110.2:c.6600_6601insAG	XP_005265167.1:p.Glu2201ArgfsTer24
XM_006713131.2:c.6651_6652insAG	XP_006713194.1:p.Glu2218ArgfsTer24
XM_011533681.1:c.6720_6721insAG	XP_011531983.1:p.Glu2241ArgfsTer24
XM_011533682.1:c.6720_6721insAG	XP_011531984.1:p.Glu2241ArgfsTer24
XM_011533683.1:c.6717_6718insAG	XP_011531985.1:p.Glu2240ArgfsTer24
XM_011533684.1:c.6693_6694insAG	XP_011531986.1:p.Glu2232ArgfsTer24
XM_011533685.1:c.6687_6688insAG	XP_011531987.1:p.Glu2230ArgfsTer24
XM_011533686.1:c.6684_6685insAG	XP_011531988.1:p.Glu2229ArgfsTer24
XM_011533687.1:c.6675_6676insAG	XP_011531989.1:p.Glu2226ArgfsTer24
XM_011533688.1:c.6648_6649insAG	XP_011531990.1:p.Glu2217ArgfsTer24
XM_011533689.1:c.6609_6610insAG	XP_011531991.1:p.Glu2204ArgfsTer24
XM_011533690.1:c.6720_6721insAG	XP_011531992.1:p.Glu2241ArgfsTer24
XM_005265109.3:c.6648_6649insAG	XP_005265166.1:p.Glu2217ArgfsTer24
XM_005265110.3:c.6600_6601insAG	XP_005265167.1:p.Glu2201ArgfsTer24
XM_006713131.3:c.6651_6652insAG	XP_006713194.1:p.Glu2218ArgfsTer24
XM_011533682.3:c.6720_6721insAG	XP_011531984.1:p.Glu2241ArgfsTer24
XM_011533683.3:c.6717_6718insAG	XP_011531985.1:p.Glu2240ArgfsTer24
XM_011533684.2:c.6693_6694insAG	XP_011531986.1:p.Glu2232ArgfsTer24
XM_011533685.2:c.6687_6688insAG	XP_011531987.1:p.Glu2230ArgfsTer24
XM_011533686.2:c.6684_6685insAG	XP_011531988.1:p.Glu2229ArgfsTer24
XM_011533687.2:c.6675_6676insAG	XP_011531989.1:p.Glu2226ArgfsTer24
XM_011533688.2:c.6648_6649insAG	XP_011531990.1:p.Glu2217ArgfsTer24
XM_011533690.2:c.6720_6721insAG	XP_011531992.1:p.Glu2241ArgfsTer24
XM_017006357.2:c.6717_6718insAG	XP_016861846.1:p.Glu2240ArgfsTer24
NM_001099952.3:c.6573_6574insAG	NP_001093422.2:p.Glu2192ArgfsTer24
NM_002222.6:c.6528_6529insAG	NP_002213.5:p.Glu2177ArgfsTer24
NM_001099952.4:c.6573_6574insAG	NP_001093422.2:p.Glu2192ArgfsTer24
NM_001168272.2:c.6672_6673insAG	NP_001161744.1:p.Glu2225ArgfsTer24
NM_001378452.1:c.6717_6718insAG MANE Select	NP_001365381.1:p.Glu2240ArgfsTer24
NM_002222.7:c.6528_6529insAG	NP_002213.5:p.Glu2177ArgfsTer24