Canonical Allele Identifier: CA907709387

Gene: ITPR1

Linked Data

• dbSNP Id: rs1265704698
• gnomAD v3: 3-4787860-GACC-G
• gnomAD v4: 3-4787860-GACC-G
• MyVariant Identifiers: chr3:g.4829545_4829547del (hg19) ; chr3:g.4787861_4787863del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4787864_4787866del , CM000665.2:g.4787864_4787866del	GRCh38
NC_000003.11:g.4829548_4829550del , CM000665.1:g.4829548_4829550del	GRCh37
NC_000003.10:g.4804548_4804550del	NCBI36
NG_016144.1:g.299517_299519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6627-83_6627-81del	ENSP00000306253.9:n.6627-83_6627-81del
ENST00000354582.12:c.6592-83_6592-81del	ENSP00000346595.8:n.6592-83_6592-81del
ENST00000443694.5:c.6571-83_6571-81del	ENSP00000401671.2:n.6571-83_6571-81del
ENST00000354582.11:c.6592-83_6592-81del	ENSP00000346595.8:n.6592-83_6592-81del
ENST00000357086.10:c.6472-83_6472-81del	ENSP00000349597.4:n.6472-83_6472-81del
ENST00000443694.4:c.6571-83_6571-81del	ENSP00000401671.2:n.6571-83_6571-81del
ENST00000456211.8:c.6427-83_6427-81del	ENSP00000397885.2:n.6427-83_6427-81del
ENST00000481415.2:n.508-83_508-81del
ENST00000544951.6:c.997-18239_997-18237del	ENSP00000440564.1:n.997-18239_997-18237del
ENST00000647708.1:c.2515-83_2515-81del
ENST00000647717.1:n.4120-83_4120-81del
ENST00000648016.1:c.2951-83_2951-81del
ENST00000648038.1:c.4378-83_4378-81del	ENSP00000497872.1:n.4378-83_4378-81del
ENST00000648212.1:c.3524-83_3524-81del
ENST00000648266.1:c.6589-83_6589-81del	ENSP00000498014.1:n.6589-83_6589-81del
ENST00000648309.1:c.6544-83_6544-81del	ENSP00000497026.1:n.6544-83_6544-81del
ENST00000648390.1:c.447-58275_447-58273del
ENST00000648431.1:c.3918-83_3918-81del
ENST00000648510.1:n.450-83_450-81del
ENST00000649015.2:c.6616-83_6616-81del MANE Select	ENSP00000497605.1:n.6616-83_6616-81del
ENST00000649144.1:n.1664-83_1664-81del
ENST00000649272.1:n.178-83_178-81del
ENST00000649694.1:n.4101-83_4101-81del
ENST00000650294.1:c.6574-83_6574-81del	ENSP00000498056.1:n.6574-83_6574-81del
ENST00000302640.12:c.6571-83_6571-81del	ENSP00000306253.8:n.6571-83_6571-81del
ENST00000354582.10:c.6616-83_6616-81del	ENSP00000346595.7:n.6616-83_6616-81del
ENST00000357086.9:c.6472-83_6472-81del	ENSP00000349597.4:n.6472-83_6472-81del
ENST00000443694.3:c.6571-83_6571-81del	ENSP00000401671.2:n.6571-83_6571-81del
ENST00000456211.7:c.6427-83_6427-81del	ENSP00000397885.2:n.6427-83_6427-81del
ENST00000481415.1:n.508-83_508-81del
ENST00000544951.5:c.997-18239_997-18237del	ENSP00000440564.1:n.997-18239_997-18237del
NM_001099952.2:c.6472-83_6472-81del	NP_001093422.2:n.6472-83_6472-81del
NM_001168272.1:c.6571-83_6571-81del	NP_001161744.1:n.6571-83_6571-81del
NM_002222.5:c.6427-83_6427-81del	NP_002213.5:n.6427-83_6427-81del
XM_005265109.2:c.6547-83_6547-81del	XP_005265166.1:n.6547-83_6547-81del
XM_005265110.2:c.6499-83_6499-81del	XP_005265167.1:n.6499-83_6499-81del
XM_006713131.2:c.6550-83_6550-81del	XP_006713194.1:n.6550-83_6550-81del
XM_011533681.1:c.6619-83_6619-81del	XP_011531983.1:n.6619-83_6619-81del
XM_011533682.1:c.6619-83_6619-81del	XP_011531984.1:n.6619-83_6619-81del
XM_011533683.1:c.6616-83_6616-81del	XP_011531985.1:n.6616-83_6616-81del
XM_011533684.1:c.6592-83_6592-81del	XP_011531986.1:n.6592-83_6592-81del
XM_011533685.1:c.6586-83_6586-81del	XP_011531987.1:n.6586-83_6586-81del
XM_011533686.1:c.6583-83_6583-81del	XP_011531988.1:n.6583-83_6583-81del
XM_011533687.1:c.6574-83_6574-81del	XP_011531989.1:n.6574-83_6574-81del
XM_011533688.1:c.6547-83_6547-81del	XP_011531990.1:n.6547-83_6547-81del
XM_011533689.1:c.6508-83_6508-81del	XP_011531991.1:n.6508-83_6508-81del
XM_011533690.1:c.6619-83_6619-81del	XP_011531992.1:n.6619-83_6619-81del
XM_005265109.3:c.6547-83_6547-81del	XP_005265166.1:n.6547-83_6547-81del
XM_005265110.3:c.6499-83_6499-81del	XP_005265167.1:n.6499-83_6499-81del
XM_006713131.3:c.6550-83_6550-81del	XP_006713194.1:n.6550-83_6550-81del
XM_011533682.3:c.6619-83_6619-81del	XP_011531984.1:n.6619-83_6619-81del
XM_011533683.3:c.6616-83_6616-81del	XP_011531985.1:n.6616-83_6616-81del
XM_011533684.2:c.6592-83_6592-81del	XP_011531986.1:n.6592-83_6592-81del
XM_011533685.2:c.6586-83_6586-81del	XP_011531987.1:n.6586-83_6586-81del
XM_011533686.2:c.6583-83_6583-81del	XP_011531988.1:n.6583-83_6583-81del
XM_011533687.2:c.6574-83_6574-81del	XP_011531989.1:n.6574-83_6574-81del
XM_011533688.2:c.6547-83_6547-81del	XP_011531990.1:n.6547-83_6547-81del
XM_011533690.2:c.6619-83_6619-81del	XP_011531992.1:n.6619-83_6619-81del
XM_017006357.2:c.6616-83_6616-81del	XP_016861846.1:n.6616-83_6616-81del
NM_001099952.3:c.6472-83_6472-81del	NP_001093422.2:n.6472-83_6472-81del
NM_002222.6:c.6427-83_6427-81del	NP_002213.5:n.6427-83_6427-81del
NM_001099952.4:c.6472-83_6472-81del	NP_001093422.2:n.6472-83_6472-81del
NM_001168272.2:c.6571-83_6571-81del	NP_001161744.1:n.6571-83_6571-81del
NM_001378452.1:c.6616-83_6616-81del MANE Select	NP_001365381.1:n.6616-83_6616-81del
NM_002222.7:c.6427-83_6427-81del	NP_002213.5:n.6427-83_6427-81del