Canonical Allele Identifier: CA2664221043

Gene: ITPR1

Linked Data

• gnomAD v4: 3-4788076-AATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788079_4788081del , CM000665.2:g.4788079_4788081del	GRCh38
NC_000003.11:g.4829763_4829765del , CM000665.1:g.4829763_4829765del	GRCh37
NC_000003.10:g.4804763_4804765del	NCBI36
NG_016144.1:g.299732_299734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6759_6761del	ENSP00000306253.9:n.6759_6761del
ENST00000354582.12:c.6724_6726del	ENSP00000346595.8:p.Asp2242del
ENST00000443694.5:c.6703_6705del	ENSP00000401671.2:p.Asp2235del
ENST00000354582.11:c.6724_6726del	ENSP00000346595.8:p.Asp2242del
ENST00000357086.10:c.6604_6606del	ENSP00000349597.4:p.Asp2202del
ENST00000443694.4:c.6703_6705del	ENSP00000401671.2:p.Asp2235del
ENST00000456211.8:c.6559_6561del	ENSP00000397885.2:p.Asp2187del
ENST00000481415.2:n.640_642del
ENST00000544951.6:c.997-18024_997-18022del	ENSP00000440564.1:n.997-18024_997-18022del
ENST00000647708.1:c.2647_2649del
ENST00000647717.1:n.4252_4254del
ENST00000648016.1:c.3083_3085del
ENST00000648038.1:c.4510_4512del	ENSP00000497872.1:p.Asp1504del
ENST00000648212.1:c.3656_3658del
ENST00000648266.1:c.6721_6723del	ENSP00000498014.1:p.Asp2241del
ENST00000648309.1:c.6676_6678del	ENSP00000497026.1:p.Asp2226del
ENST00000648390.1:c.447-58060_447-58058del
ENST00000648431.1:c.4050_4052del
ENST00000648510.1:n.582_584del
ENST00000649015.2:c.6748_6750del MANE Select	ENSP00000497605.1:p.Asp2250del
ENST00000649144.1:n.1796_1798del
ENST00000649272.1:n.310_312del
ENST00000649694.1:n.4233_4235del
ENST00000650294.1:c.6706_6708del	ENSP00000498056.1:p.Asp2236del
ENST00000302640.12:c.6703_6705del	ENSP00000306253.8:p.Asp2235del
ENST00000354582.10:c.6748_6750del	ENSP00000346595.7:p.Asp2250del
ENST00000357086.9:c.6604_6606del	ENSP00000349597.4:p.Asp2202del
ENST00000443694.3:c.6703_6705del	ENSP00000401671.2:p.Asp2235del
ENST00000456211.7:c.6559_6561del	ENSP00000397885.2:p.Asp2187del
ENST00000544951.5:c.997-18024_997-18022del	ENSP00000440564.1:n.997-18024_997-18022del
NM_001099952.2:c.6604_6606del	NP_001093422.2:p.Asp2202del
NM_001168272.1:c.6703_6705del	NP_001161744.1:p.Asp2235del
NM_002222.5:c.6559_6561del	NP_002213.5:p.Asp2187del
XM_005265109.2:c.6679_6681del	XP_005265166.1:p.Asp2227del
XM_005265110.2:c.6631_6633del	XP_005265167.1:p.Asp2211del
XM_006713131.2:c.6682_6684del	XP_006713194.1:p.Asp2228del
XM_011533681.1:c.6751_6753del	XP_011531983.1:p.Asp2251del
XM_011533682.1:c.6751_6753del	XP_011531984.1:p.Asp2251del
XM_011533683.1:c.6748_6750del	XP_011531985.1:p.Asp2250del
XM_011533684.1:c.6724_6726del	XP_011531986.1:p.Asp2242del
XM_011533685.1:c.6718_6720del	XP_011531987.1:p.Asp2240del
XM_011533686.1:c.6715_6717del	XP_011531988.1:p.Asp2239del
XM_011533687.1:c.6706_6708del	XP_011531989.1:p.Asp2236del
XM_011533688.1:c.6679_6681del	XP_011531990.1:p.Asp2227del
XM_011533689.1:c.6640_6642del	XP_011531991.1:p.Asp2214del
XM_011533690.1:c.6751_6753del	XP_011531992.1:p.Asp2251del
XM_005265109.3:c.6679_6681del	XP_005265166.1:p.Asp2227del
XM_005265110.3:c.6631_6633del	XP_005265167.1:p.Asp2211del
XM_006713131.3:c.6682_6684del	XP_006713194.1:p.Asp2228del
XM_011533682.3:c.6751_6753del	XP_011531984.1:p.Asp2251del
XM_011533683.3:c.6748_6750del	XP_011531985.1:p.Asp2250del
XM_011533684.2:c.6724_6726del	XP_011531986.1:p.Asp2242del
XM_011533685.2:c.6718_6720del	XP_011531987.1:p.Asp2240del
XM_011533686.2:c.6715_6717del	XP_011531988.1:p.Asp2239del
XM_011533687.2:c.6706_6708del	XP_011531989.1:p.Asp2236del
XM_011533688.2:c.6679_6681del	XP_011531990.1:p.Asp2227del
XM_011533690.2:c.6751_6753del	XP_011531992.1:p.Asp2251del
XM_017006357.2:c.6748_6750del	XP_016861846.1:p.Asp2250del
NM_001099952.3:c.6604_6606del	NP_001093422.2:p.Asp2202del
NM_002222.6:c.6559_6561del	NP_002213.5:p.Asp2187del
NM_001099952.4:c.6604_6606del	NP_001093422.2:p.Asp2202del
NM_001168272.2:c.6703_6705del	NP_001161744.1:p.Asp2235del
NM_001378452.1:c.6748_6750del MANE Select	NP_001365381.1:p.Asp2250del
NM_002222.7:c.6559_6561del	NP_002213.5:p.Asp2187del