Canonical Allele Identifier: CA540820309

Gene: ITPR1

Linked Data

• gnomAD v2: 3-4829535-C-CG
• gnomAD v3: 3-4787851-C-CG
• gnomAD v4: 3-4787851-C-CG
• MyVariant Identifiers: chr3:g.4829535_4829536insG (hg19) ; chr3:g.4787851_4787852insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787851_4787852insG , CM000665.2:g.4787851_4787852insG	GRCh38
NC_000003.11:g.4829535_4829536insG , CM000665.1:g.4829535_4829536insG	GRCh37
NC_000003.10:g.4804535_4804536insG	NCBI36
NG_016144.1:g.299504_299505insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6627-96_6627-95insG	ENSP00000306253.9:n.6627-96_6627-95insG
ENST00000354582.12:c.6592-96_6592-95insG	ENSP00000346595.8:n.6592-96_6592-95insG
ENST00000443694.5:c.6571-96_6571-95insG	ENSP00000401671.2:n.6571-96_6571-95insG
ENST00000354582.11:c.6592-96_6592-95insG	ENSP00000346595.8:n.6592-96_6592-95insG
ENST00000357086.10:c.6472-96_6472-95insG	ENSP00000349597.4:n.6472-96_6472-95insG
ENST00000443694.4:c.6571-96_6571-95insG	ENSP00000401671.2:n.6571-96_6571-95insG
ENST00000456211.8:c.6427-96_6427-95insG	ENSP00000397885.2:n.6427-96_6427-95insG
ENST00000481415.2:n.508-96_508-95insG
ENST00000544951.6:c.997-18252_997-18251insG	ENSP00000440564.1:n.997-18252_997-18251insG
ENST00000647708.1:c.2515-96_2515-95insG
ENST00000647717.1:n.4120-96_4120-95insG
ENST00000648016.1:c.2951-96_2951-95insG
ENST00000648038.1:c.4378-96_4378-95insG	ENSP00000497872.1:n.4378-96_4378-95insG
ENST00000648212.1:c.3524-96_3524-95insG
ENST00000648266.1:c.6589-96_6589-95insG	ENSP00000498014.1:n.6589-96_6589-95insG
ENST00000648309.1:c.6544-96_6544-95insG	ENSP00000497026.1:n.6544-96_6544-95insG
ENST00000648390.1:c.447-58288_447-58287insG
ENST00000648431.1:c.3918-96_3918-95insG
ENST00000648510.1:n.450-96_450-95insG
ENST00000649015.2:c.6616-96_6616-95insG MANE Select	ENSP00000497605.1:n.6616-96_6616-95insG
ENST00000649144.1:n.1664-96_1664-95insG
ENST00000649272.1:n.178-96_178-95insG
ENST00000649694.1:n.4101-96_4101-95insG
ENST00000650294.1:c.6574-96_6574-95insG	ENSP00000498056.1:n.6574-96_6574-95insG
ENST00000302640.12:c.6571-96_6571-95insG	ENSP00000306253.8:n.6571-96_6571-95insG
ENST00000354582.10:c.6616-96_6616-95insG	ENSP00000346595.7:n.6616-96_6616-95insG
ENST00000357086.9:c.6472-96_6472-95insG	ENSP00000349597.4:n.6472-96_6472-95insG
ENST00000443694.3:c.6571-96_6571-95insG	ENSP00000401671.2:n.6571-96_6571-95insG
ENST00000456211.7:c.6427-96_6427-95insG	ENSP00000397885.2:n.6427-96_6427-95insG
ENST00000481415.1:n.508-96_508-95insG
ENST00000544951.5:c.997-18252_997-18251insG	ENSP00000440564.1:n.997-18252_997-18251insG
NM_001099952.2:c.6472-96_6472-95insG	NP_001093422.2:n.6472-96_6472-95insG
NM_001168272.1:c.6571-96_6571-95insG	NP_001161744.1:n.6571-96_6571-95insG
NM_002222.5:c.6427-96_6427-95insG	NP_002213.5:n.6427-96_6427-95insG
XM_005265109.2:c.6547-96_6547-95insG	XP_005265166.1:n.6547-96_6547-95insG
XM_005265110.2:c.6499-96_6499-95insG	XP_005265167.1:n.6499-96_6499-95insG
XM_006713131.2:c.6550-96_6550-95insG	XP_006713194.1:n.6550-96_6550-95insG
XM_011533681.1:c.6619-96_6619-95insG	XP_011531983.1:n.6619-96_6619-95insG
XM_011533682.1:c.6619-96_6619-95insG	XP_011531984.1:n.6619-96_6619-95insG
XM_011533683.1:c.6616-96_6616-95insG	XP_011531985.1:n.6616-96_6616-95insG
XM_011533684.1:c.6592-96_6592-95insG	XP_011531986.1:n.6592-96_6592-95insG
XM_011533685.1:c.6586-96_6586-95insG	XP_011531987.1:n.6586-96_6586-95insG
XM_011533686.1:c.6583-96_6583-95insG	XP_011531988.1:n.6583-96_6583-95insG
XM_011533687.1:c.6574-96_6574-95insG	XP_011531989.1:n.6574-96_6574-95insG
XM_011533688.1:c.6547-96_6547-95insG	XP_011531990.1:n.6547-96_6547-95insG
XM_011533689.1:c.6508-96_6508-95insG	XP_011531991.1:n.6508-96_6508-95insG
XM_011533690.1:c.6619-96_6619-95insG	XP_011531992.1:n.6619-96_6619-95insG
XM_005265109.3:c.6547-96_6547-95insG	XP_005265166.1:n.6547-96_6547-95insG
XM_005265110.3:c.6499-96_6499-95insG	XP_005265167.1:n.6499-96_6499-95insG
XM_006713131.3:c.6550-96_6550-95insG	XP_006713194.1:n.6550-96_6550-95insG
XM_011533682.3:c.6619-96_6619-95insG	XP_011531984.1:n.6619-96_6619-95insG
XM_011533683.3:c.6616-96_6616-95insG	XP_011531985.1:n.6616-96_6616-95insG
XM_011533684.2:c.6592-96_6592-95insG	XP_011531986.1:n.6592-96_6592-95insG
XM_011533685.2:c.6586-96_6586-95insG	XP_011531987.1:n.6586-96_6586-95insG
XM_011533686.2:c.6583-96_6583-95insG	XP_011531988.1:n.6583-96_6583-95insG
XM_011533687.2:c.6574-96_6574-95insG	XP_011531989.1:n.6574-96_6574-95insG
XM_011533688.2:c.6547-96_6547-95insG	XP_011531990.1:n.6547-96_6547-95insG
XM_011533690.2:c.6619-96_6619-95insG	XP_011531992.1:n.6619-96_6619-95insG
XM_017006357.2:c.6616-96_6616-95insG	XP_016861846.1:n.6616-96_6616-95insG
NM_001099952.3:c.6472-96_6472-95insG	NP_001093422.2:n.6472-96_6472-95insG
NM_002222.6:c.6427-96_6427-95insG	NP_002213.5:n.6427-96_6427-95insG
NM_001099952.4:c.6472-96_6472-95insG	NP_001093422.2:n.6472-96_6472-95insG
NM_001168272.2:c.6571-96_6571-95insG	NP_001161744.1:n.6571-96_6571-95insG
NM_001378452.1:c.6616-96_6616-95insG MANE Select	NP_001365381.1:n.6616-96_6616-95insG
NM_002222.7:c.6427-96_6427-95insG	NP_002213.5:n.6427-96_6427-95insG