Canonical Allele Identifier: CA540820313

Gene: ITPR1

Linked Data

• gnomAD v2: 3-4829537-CAATCTT-C
• gnomAD v3: 3-4787853-CAATCTT-C
• gnomAD v4: 3-4787853-CAATCTT-C
• MyVariant Identifiers: chr3:g.4829538_4829543del (hg19) ; chr3:g.4787854_4787859del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787854_4787859del , CM000665.2:g.4787854_4787859del	GRCh38
NC_000003.11:g.4829538_4829543del , CM000665.1:g.4829538_4829543del	GRCh37
NC_000003.10:g.4804538_4804543del	NCBI36
NG_016144.1:g.299507_299512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6627-93_6627-88del	ENSP00000306253.9:n.6627-93_6627-88del
ENST00000354582.12:c.6592-93_6592-88del	ENSP00000346595.8:n.6592-93_6592-88del
ENST00000443694.5:c.6571-93_6571-88del	ENSP00000401671.2:n.6571-93_6571-88del
ENST00000354582.11:c.6592-93_6592-88del	ENSP00000346595.8:n.6592-93_6592-88del
ENST00000357086.10:c.6472-93_6472-88del	ENSP00000349597.4:n.6472-93_6472-88del
ENST00000443694.4:c.6571-93_6571-88del	ENSP00000401671.2:n.6571-93_6571-88del
ENST00000456211.8:c.6427-93_6427-88del	ENSP00000397885.2:n.6427-93_6427-88del
ENST00000481415.2:n.508-93_508-88del
ENST00000544951.6:c.997-18249_997-18244del	ENSP00000440564.1:n.997-18249_997-18244del
ENST00000647708.1:c.2515-93_2515-88del
ENST00000647717.1:n.4120-93_4120-88del
ENST00000648016.1:c.2951-93_2951-88del
ENST00000648038.1:c.4378-93_4378-88del	ENSP00000497872.1:n.4378-93_4378-88del
ENST00000648212.1:c.3524-93_3524-88del
ENST00000648266.1:c.6589-93_6589-88del	ENSP00000498014.1:n.6589-93_6589-88del
ENST00000648309.1:c.6544-93_6544-88del	ENSP00000497026.1:n.6544-93_6544-88del
ENST00000648390.1:c.447-58285_447-58280del
ENST00000648431.1:c.3918-93_3918-88del
ENST00000648510.1:n.450-93_450-88del
ENST00000649015.2:c.6616-93_6616-88del MANE Select	ENSP00000497605.1:n.6616-93_6616-88del
ENST00000649144.1:n.1664-93_1664-88del
ENST00000649272.1:n.178-93_178-88del
ENST00000649694.1:n.4101-93_4101-88del
ENST00000650294.1:c.6574-93_6574-88del	ENSP00000498056.1:n.6574-93_6574-88del
ENST00000302640.12:c.6571-93_6571-88del	ENSP00000306253.8:n.6571-93_6571-88del
ENST00000354582.10:c.6616-93_6616-88del	ENSP00000346595.7:n.6616-93_6616-88del
ENST00000357086.9:c.6472-93_6472-88del	ENSP00000349597.4:n.6472-93_6472-88del
ENST00000443694.3:c.6571-93_6571-88del	ENSP00000401671.2:n.6571-93_6571-88del
ENST00000456211.7:c.6427-93_6427-88del	ENSP00000397885.2:n.6427-93_6427-88del
ENST00000481415.1:n.508-93_508-88del
ENST00000544951.5:c.997-18249_997-18244del	ENSP00000440564.1:n.997-18249_997-18244del
NM_001099952.2:c.6472-93_6472-88del	NP_001093422.2:n.6472-93_6472-88del
NM_001168272.1:c.6571-93_6571-88del	NP_001161744.1:n.6571-93_6571-88del
NM_002222.5:c.6427-93_6427-88del	NP_002213.5:n.6427-93_6427-88del
XM_005265109.2:c.6547-93_6547-88del	XP_005265166.1:n.6547-93_6547-88del
XM_005265110.2:c.6499-93_6499-88del	XP_005265167.1:n.6499-93_6499-88del
XM_006713131.2:c.6550-93_6550-88del	XP_006713194.1:n.6550-93_6550-88del
XM_011533681.1:c.6619-93_6619-88del	XP_011531983.1:n.6619-93_6619-88del
XM_011533682.1:c.6619-93_6619-88del	XP_011531984.1:n.6619-93_6619-88del
XM_011533683.1:c.6616-93_6616-88del	XP_011531985.1:n.6616-93_6616-88del
XM_011533684.1:c.6592-93_6592-88del	XP_011531986.1:n.6592-93_6592-88del
XM_011533685.1:c.6586-93_6586-88del	XP_011531987.1:n.6586-93_6586-88del
XM_011533686.1:c.6583-93_6583-88del	XP_011531988.1:n.6583-93_6583-88del
XM_011533687.1:c.6574-93_6574-88del	XP_011531989.1:n.6574-93_6574-88del
XM_011533688.1:c.6547-93_6547-88del	XP_011531990.1:n.6547-93_6547-88del
XM_011533689.1:c.6508-93_6508-88del	XP_011531991.1:n.6508-93_6508-88del
XM_011533690.1:c.6619-93_6619-88del	XP_011531992.1:n.6619-93_6619-88del
XM_005265109.3:c.6547-93_6547-88del	XP_005265166.1:n.6547-93_6547-88del
XM_005265110.3:c.6499-93_6499-88del	XP_005265167.1:n.6499-93_6499-88del
XM_006713131.3:c.6550-93_6550-88del	XP_006713194.1:n.6550-93_6550-88del
XM_011533682.3:c.6619-93_6619-88del	XP_011531984.1:n.6619-93_6619-88del
XM_011533683.3:c.6616-93_6616-88del	XP_011531985.1:n.6616-93_6616-88del
XM_011533684.2:c.6592-93_6592-88del	XP_011531986.1:n.6592-93_6592-88del
XM_011533685.2:c.6586-93_6586-88del	XP_011531987.1:n.6586-93_6586-88del
XM_011533686.2:c.6583-93_6583-88del	XP_011531988.1:n.6583-93_6583-88del
XM_011533687.2:c.6574-93_6574-88del	XP_011531989.1:n.6574-93_6574-88del
XM_011533688.2:c.6547-93_6547-88del	XP_011531990.1:n.6547-93_6547-88del
XM_011533690.2:c.6619-93_6619-88del	XP_011531992.1:n.6619-93_6619-88del
XM_017006357.2:c.6616-93_6616-88del	XP_016861846.1:n.6616-93_6616-88del
NM_001099952.3:c.6472-93_6472-88del	NP_001093422.2:n.6472-93_6472-88del
NM_002222.6:c.6427-93_6427-88del	NP_002213.5:n.6427-93_6427-88del
NM_001099952.4:c.6472-93_6472-88del	NP_001093422.2:n.6472-93_6472-88del
NM_001168272.2:c.6571-93_6571-88del	NP_001161744.1:n.6571-93_6571-88del
NM_001378452.1:c.6616-93_6616-88del MANE Select	NP_001365381.1:n.6616-93_6616-88del
NM_002222.7:c.6427-93_6427-88del	NP_002213.5:n.6427-93_6427-88del