Canonical Allele Identifier: CA1044577153

Gene: ITPR1

Linked Data

• gnomAD v3: 3-4787856-T-TGATACGG
• gnomAD v4: 3-4787856-T-TGATACGG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787856_4787857insGATACGG , CM000665.2:g.4787856_4787857insGATACGG	GRCh38
NC_000003.11:g.4829540_4829541insGATACGG , CM000665.1:g.4829540_4829541insGATACGG	GRCh37
NC_000003.10:g.4804540_4804541insGATACGG	NCBI36
NG_016144.1:g.299509_299510insGATACGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000302640.13:c.6627-91_6627-90insGATACGG	ENSP00000306253.9:n.6627-91_6627-90insGATACGG
ENST00000354582.12:c.6592-91_6592-90insGATACGG	ENSP00000346595.8:n.6592-91_6592-90insGATACGG
ENST00000443694.5:c.6571-91_6571-90insGATACGG	ENSP00000401671.2:n.6571-91_6571-90insGATACGG
ENST00000354582.11:c.6592-91_6592-90insGATACGG	ENSP00000346595.8:n.6592-91_6592-90insGATACGG
ENST00000357086.10:c.6472-91_6472-90insGATACGG	ENSP00000349597.4:n.6472-91_6472-90insGATACGG
ENST00000443694.4:c.6571-91_6571-90insGATACGG	ENSP00000401671.2:n.6571-91_6571-90insGATACGG
ENST00000456211.8:c.6427-91_6427-90insGATACGG	ENSP00000397885.2:n.6427-91_6427-90insGATACGG
ENST00000481415.2:n.508-91_508-90insGATACGG
ENST00000544951.6:c.997-18247_997-18246insGATACGG	ENSP00000440564.1:n.997-18247_997-18246insGATACGG
ENST00000647708.1:c.2515-91_2515-90insGATACGG
ENST00000647717.1:n.4120-91_4120-90insGATACGG
ENST00000648016.1:c.2951-91_2951-90insGATACGG
ENST00000648038.1:c.4378-91_4378-90insGATACGG	ENSP00000497872.1:n.4378-91_4378-90insGATACGG
ENST00000648212.1:c.3524-91_3524-90insGATACGG
ENST00000648266.1:c.6589-91_6589-90insGATACGG	ENSP00000498014.1:n.6589-91_6589-90insGATACGG
ENST00000648309.1:c.6544-91_6544-90insGATACGG	ENSP00000497026.1:n.6544-91_6544-90insGATACGG
ENST00000648390.1:c.447-58283_447-58282insGATACGG
ENST00000648431.1:c.3918-91_3918-90insGATACGG
ENST00000648510.1:n.450-91_450-90insGATACGG
ENST00000649015.2:c.6616-91_6616-90insGATACGG MANE Select	ENSP00000497605.1:n.6616-91_6616-90insGATACGG
ENST00000649144.1:n.1664-91_1664-90insGATACGG
ENST00000649272.1:n.178-91_178-90insGATACGG
ENST00000649694.1:n.4101-91_4101-90insGATACGG
ENST00000650294.1:c.6574-91_6574-90insGATACGG	ENSP00000498056.1:n.6574-91_6574-90insGATACGG
ENST00000302640.12:c.6571-91_6571-90insGATACGG	ENSP00000306253.8:n.6571-91_6571-90insGATACGG
ENST00000354582.10:c.6616-91_6616-90insGATACGG	ENSP00000346595.7:n.6616-91_6616-90insGATACGG
ENST00000357086.9:c.6472-91_6472-90insGATACGG	ENSP00000349597.4:n.6472-91_6472-90insGATACGG
ENST00000443694.3:c.6571-91_6571-90insGATACGG	ENSP00000401671.2:n.6571-91_6571-90insGATACGG
ENST00000456211.7:c.6427-91_6427-90insGATACGG	ENSP00000397885.2:n.6427-91_6427-90insGATACGG
ENST00000481415.1:n.508-91_508-90insGATACGG
ENST00000544951.5:c.997-18247_997-18246insGATACGG	ENSP00000440564.1:n.997-18247_997-18246insGATACGG
NM_001099952.2:c.6472-91_6472-90insGATACGG	NP_001093422.2:n.6472-91_6472-90insGATACGG
NM_001168272.1:c.6571-91_6571-90insGATACGG	NP_001161744.1:n.6571-91_6571-90insGATACGG
NM_002222.5:c.6427-91_6427-90insGATACGG	NP_002213.5:n.6427-91_6427-90insGATACGG
XM_005265109.2:c.6547-91_6547-90insGATACGG	XP_005265166.1:n.6547-91_6547-90insGATACGG
XM_005265110.2:c.6499-91_6499-90insGATACGG	XP_005265167.1:n.6499-91_6499-90insGATACGG
XM_006713131.2:c.6550-91_6550-90insGATACGG	XP_006713194.1:n.6550-91_6550-90insGATACGG
XM_011533681.1:c.6619-91_6619-90insGATACGG	XP_011531983.1:n.6619-91_6619-90insGATACGG
XM_011533682.1:c.6619-91_6619-90insGATACGG	XP_011531984.1:n.6619-91_6619-90insGATACGG
XM_011533683.1:c.6616-91_6616-90insGATACGG	XP_011531985.1:n.6616-91_6616-90insGATACGG
XM_011533684.1:c.6592-91_6592-90insGATACGG	XP_011531986.1:n.6592-91_6592-90insGATACGG
XM_011533685.1:c.6586-91_6586-90insGATACGG	XP_011531987.1:n.6586-91_6586-90insGATACGG
XM_011533686.1:c.6583-91_6583-90insGATACGG	XP_011531988.1:n.6583-91_6583-90insGATACGG
XM_011533687.1:c.6574-91_6574-90insGATACGG	XP_011531989.1:n.6574-91_6574-90insGATACGG
XM_011533688.1:c.6547-91_6547-90insGATACGG	XP_011531990.1:n.6547-91_6547-90insGATACGG
XM_011533689.1:c.6508-91_6508-90insGATACGG	XP_011531991.1:n.6508-91_6508-90insGATACGG
XM_011533690.1:c.6619-91_6619-90insGATACGG	XP_011531992.1:n.6619-91_6619-90insGATACGG
XM_005265109.3:c.6547-91_6547-90insGATACGG	XP_005265166.1:n.6547-91_6547-90insGATACGG
XM_005265110.3:c.6499-91_6499-90insGATACGG	XP_005265167.1:n.6499-91_6499-90insGATACGG
XM_006713131.3:c.6550-91_6550-90insGATACGG	XP_006713194.1:n.6550-91_6550-90insGATACGG
XM_011533682.3:c.6619-91_6619-90insGATACGG	XP_011531984.1:n.6619-91_6619-90insGATACGG
XM_011533683.3:c.6616-91_6616-90insGATACGG	XP_011531985.1:n.6616-91_6616-90insGATACGG
XM_011533684.2:c.6592-91_6592-90insGATACGG	XP_011531986.1:n.6592-91_6592-90insGATACGG
XM_011533685.2:c.6586-91_6586-90insGATACGG	XP_011531987.1:n.6586-91_6586-90insGATACGG
XM_011533686.2:c.6583-91_6583-90insGATACGG	XP_011531988.1:n.6583-91_6583-90insGATACGG
XM_011533687.2:c.6574-91_6574-90insGATACGG	XP_011531989.1:n.6574-91_6574-90insGATACGG
XM_011533688.2:c.6547-91_6547-90insGATACGG	XP_011531990.1:n.6547-91_6547-90insGATACGG
XM_011533690.2:c.6619-91_6619-90insGATACGG	XP_011531992.1:n.6619-91_6619-90insGATACGG
XM_017006357.2:c.6616-91_6616-90insGATACGG	XP_016861846.1:n.6616-91_6616-90insGATACGG
NM_001099952.3:c.6472-91_6472-90insGATACGG	NP_001093422.2:n.6472-91_6472-90insGATACGG
NM_002222.6:c.6427-91_6427-90insGATACGG	NP_002213.5:n.6427-91_6427-90insGATACGG
NM_001099952.4:c.6472-91_6472-90insGATACGG	NP_001093422.2:n.6472-91_6472-90insGATACGG
NM_001168272.2:c.6571-91_6571-90insGATACGG	NP_001161744.1:n.6571-91_6571-90insGATACGG
NM_001378452.1:c.6616-91_6616-90insGATACGG MANE Select	NP_001365381.1:n.6616-91_6616-90insGATACGG
NM_002222.7:c.6427-91_6427-90insGATACGG	NP_002213.5:n.6427-91_6427-90insGATACGG