Canonical Allele Identifier: CA1342337318
Gene: ITPR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.4787768_4787769delinsTC , CM000665.2:g.4787768_4787769delinsTC GRCh38
NC_000003.11:g.4829452_4829453delinsTC , CM000665.1:g.4829452_4829453delinsTC GRCh37
NC_000003.10:g.4804452_4804453delinsTC NCBI36
NG_016144.1:g.299421_299422delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000302640.13:c.6627-179_6627-178delinsTC ENSP00000306253.9:n.6627-179_6627-178delinsTC
ENST00000354582.12:c.6592-179_6592-178delinsTC ENSP00000346595.8:n.6592-179_6592-178delinsTC
ENST00000443694.5:c.6571-179_6571-178delinsTC ENSP00000401671.2:n.6571-179_6571-178delinsTC
ENST00000354582.11:c.6592-179_6592-178delinsTC ENSP00000346595.8:n.6592-179_6592-178delinsTC
ENST00000357086.10:c.6472-179_6472-178delinsTC ENSP00000349597.4:n.6472-179_6472-178delinsTC
ENST00000443694.4:c.6571-179_6571-178delinsTC ENSP00000401671.2:n.6571-179_6571-178delinsTC
ENST00000456211.8:c.6427-179_6427-178delinsTC ENSP00000397885.2:n.6427-179_6427-178delinsTC
ENST00000481415.2:n.508-179_508-178delinsTC
ENST00000544951.6:c.997-18335_997-18334delinsTC ENSP00000440564.1:n.997-18335_997-18334delinsTC
ENST00000647708.1:c.2515-179_2515-178delinsTC
ENST00000647717.1:n.4120-179_4120-178delinsTC
ENST00000648016.1:c.2951-179_2951-178delinsTC
ENST00000648038.1:c.4378-179_4378-178delinsTC ENSP00000497872.1:n.4378-179_4378-178delinsTC
ENST00000648212.1:c.3524-179_3524-178delinsTC
ENST00000648266.1:c.6589-179_6589-178delinsTC ENSP00000498014.1:n.6589-179_6589-178delinsTC
ENST00000648309.1:c.6544-179_6544-178delinsTC ENSP00000497026.1:n.6544-179_6544-178delinsTC
ENST00000648390.1:c.447-58371_447-58370delinsTC
ENST00000648431.1:c.3918-179_3918-178delinsTC
ENST00000648510.1:n.450-179_450-178delinsTC
ENST00000649015.2:c.6616-179_6616-178delinsTC MANE Select ENSP00000497605.1:n.6616-179_6616-178delinsTC
ENST00000649144.1:n.1664-179_1664-178delinsTC
ENST00000649272.1:n.178-179_178-178delinsTC
ENST00000649694.1:n.4101-179_4101-178delinsTC
ENST00000650294.1:c.6574-179_6574-178delinsTC ENSP00000498056.1:n.6574-179_6574-178delinsTC
ENST00000302640.12:c.6571-179_6571-178delinsTC ENSP00000306253.8:n.6571-179_6571-178delinsTC
ENST00000354582.10:c.6616-179_6616-178delinsTC ENSP00000346595.7:n.6616-179_6616-178delinsTC
ENST00000357086.9:c.6472-179_6472-178delinsTC ENSP00000349597.4:n.6472-179_6472-178delinsTC
ENST00000443694.3:c.6571-179_6571-178delinsTC ENSP00000401671.2:n.6571-179_6571-178delinsTC
ENST00000456211.7:c.6427-179_6427-178delinsTC ENSP00000397885.2:n.6427-179_6427-178delinsTC
ENST00000481415.1:n.508-179_508-178delinsTC
ENST00000544951.5:c.997-18335_997-18334delinsTC ENSP00000440564.1:n.997-18335_997-18334delinsTC
NM_001099952.2:c.6472-179_6472-178delinsTC NP_001093422.2:n.6472-179_6472-178delinsTC
NM_001168272.1:c.6571-179_6571-178delinsTC NP_001161744.1:n.6571-179_6571-178delinsTC
NM_002222.5:c.6427-179_6427-178delinsTC NP_002213.5:n.6427-179_6427-178delinsTC
XM_005265109.2:c.6547-179_6547-178delinsTC XP_005265166.1:n.6547-179_6547-178delinsTC
XM_005265110.2:c.6499-179_6499-178delinsTC XP_005265167.1:n.6499-179_6499-178delinsTC
XM_006713131.2:c.6550-179_6550-178delinsTC XP_006713194.1:n.6550-179_6550-178delinsTC
XM_011533681.1:c.6619-179_6619-178delinsTC XP_011531983.1:n.6619-179_6619-178delinsTC
XM_011533682.1:c.6619-179_6619-178delinsTC XP_011531984.1:n.6619-179_6619-178delinsTC
XM_011533683.1:c.6616-179_6616-178delinsTC XP_011531985.1:n.6616-179_6616-178delinsTC
XM_011533684.1:c.6592-179_6592-178delinsTC XP_011531986.1:n.6592-179_6592-178delinsTC
XM_011533685.1:c.6586-179_6586-178delinsTC XP_011531987.1:n.6586-179_6586-178delinsTC
XM_011533686.1:c.6583-179_6583-178delinsTC XP_011531988.1:n.6583-179_6583-178delinsTC
XM_011533687.1:c.6574-179_6574-178delinsTC XP_011531989.1:n.6574-179_6574-178delinsTC
XM_011533688.1:c.6547-179_6547-178delinsTC XP_011531990.1:n.6547-179_6547-178delinsTC
XM_011533689.1:c.6508-179_6508-178delinsTC XP_011531991.1:n.6508-179_6508-178delinsTC
XM_011533690.1:c.6619-179_6619-178delinsTC XP_011531992.1:n.6619-179_6619-178delinsTC
XM_005265109.3:c.6547-179_6547-178delinsTC XP_005265166.1:n.6547-179_6547-178delinsTC
XM_005265110.3:c.6499-179_6499-178delinsTC XP_005265167.1:n.6499-179_6499-178delinsTC
XM_006713131.3:c.6550-179_6550-178delinsTC XP_006713194.1:n.6550-179_6550-178delinsTC
XM_011533682.3:c.6619-179_6619-178delinsTC XP_011531984.1:n.6619-179_6619-178delinsTC
XM_011533683.3:c.6616-179_6616-178delinsTC XP_011531985.1:n.6616-179_6616-178delinsTC
XM_011533684.2:c.6592-179_6592-178delinsTC XP_011531986.1:n.6592-179_6592-178delinsTC
XM_011533685.2:c.6586-179_6586-178delinsTC XP_011531987.1:n.6586-179_6586-178delinsTC
XM_011533686.2:c.6583-179_6583-178delinsTC XP_011531988.1:n.6583-179_6583-178delinsTC
XM_011533687.2:c.6574-179_6574-178delinsTC XP_011531989.1:n.6574-179_6574-178delinsTC
XM_011533688.2:c.6547-179_6547-178delinsTC XP_011531990.1:n.6547-179_6547-178delinsTC
XM_011533690.2:c.6619-179_6619-178delinsTC XP_011531992.1:n.6619-179_6619-178delinsTC
XM_017006357.2:c.6616-179_6616-178delinsTC XP_016861846.1:n.6616-179_6616-178delinsTC
NM_001099952.3:c.6472-179_6472-178delinsTC NP_001093422.2:n.6472-179_6472-178delinsTC
NM_002222.6:c.6427-179_6427-178delinsTC NP_002213.5:n.6427-179_6427-178delinsTC
NM_001099952.4:c.6472-179_6472-178delinsTC NP_001093422.2:n.6472-179_6472-178delinsTC
NM_001168272.2:c.6571-179_6571-178delinsTC NP_001161744.1:n.6571-179_6571-178delinsTC
NM_001378452.1:c.6616-179_6616-178delinsTC MANE Select NP_001365381.1:n.6616-179_6616-178delinsTC
NM_002222.7:c.6427-179_6427-178delinsTC NP_002213.5:n.6427-179_6427-178delinsTC