Canonical Allele Identifier: CA1342333181

Gene: ITPR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4779501_4779511delinsCCCCCAAGCAG , CM000665.2:g.4779501_4779511delinsCCCCCAAGCAG	GRCh38
NC_000003.11:g.4821185_4821195delinsCCCCCAAGCAG , CM000665.1:g.4821185_4821195delinsCCCCCAAGCAG	GRCh37
NC_000003.10:g.4796185_4796195delinsCCCCCAAGCAG	NCBI36
NG_016144.1:g.291154_291164delinsCCCCCAAGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6303-49_6303-39delinsCCCCCAAGCAG	ENSP00000306253.9:n.6303-49_6303-39delinsCCCCCAAGCAG
ENST00000354582.12:c.6268-49_6268-39delinsCCCCCAAGCAG	ENSP00000346595.8:n.6268-49_6268-39delinsCCCCCAAGCAG
ENST00000443694.5:c.6247-49_6247-39delinsCCCCCAAGCAG	ENSP00000401671.2:n.6247-49_6247-39delinsCCCCCAAGCAG
ENST00000354582.11:c.6268-49_6268-39delinsCCCCCAAGCAG	ENSP00000346595.8:n.6268-49_6268-39delinsCCCCCAAGCAG
ENST00000357086.10:c.6148-49_6148-39delinsCCCCCAAGCAG	ENSP00000349597.4:n.6148-49_6148-39delinsCCCCCAAGCAG
ENST00000443694.4:c.6247-49_6247-39delinsCCCCCAAGCAG	ENSP00000401671.2:n.6247-49_6247-39delinsCCCCCAAGCAG
ENST00000456211.8:c.6103-49_6103-39delinsCCCCCAAGCAG	ENSP00000397885.2:n.6103-49_6103-39delinsCCCCCAAGCAG
ENST00000544951.6:c.997-26602_997-26592delinsCCCCCAAGCAG	ENSP00000440564.1:n.997-26602_997-26592delinsCCCCCAAGCAG
ENST00000647708.1:c.2191-49_2191-39delinsCCCCCAAGCAG
ENST00000647717.1:n.3796-49_3796-39delinsCCCCCAAGCAG
ENST00000648016.1:c.2627-49_2627-39delinsCCCCCAAGCAG
ENST00000648038.1:c.4054-49_4054-39delinsCCCCCAAGCAG	ENSP00000497872.1:n.4054-49_4054-39delinsCCCCCAAGCAG
ENST00000648212.1:c.3200-49_3200-39delinsCCCCCAAGCAG
ENST00000648266.1:c.6265-49_6265-39delinsCCCCCAAGCAG	ENSP00000498014.1:n.6265-49_6265-39delinsCCCCCAAGCAG
ENST00000648309.1:c.6220-49_6220-39delinsCCCCCAAGCAG	ENSP00000497026.1:n.6220-49_6220-39delinsCCCCCAAGCAG
ENST00000648390.1:c.447-66638_447-66628delinsCCCCCAAGCAG
ENST00000648431.1:c.3594-49_3594-39delinsCCCCCAAGCAG
ENST00000648510.1:n.126-49_126-39delinsCCCCCAAGCAG
ENST00000649015.2:c.6292-49_6292-39delinsCCCCCAAGCAG MANE Select	ENSP00000497605.1:n.6292-49_6292-39delinsCCCCCAAGCAG
ENST00000649144.1:n.1340-49_1340-39delinsCCCCCAAGCAG
ENST00000649694.1:n.3777-49_3777-39delinsCCCCCAAGCAG
ENST00000650294.1:c.6250-49_6250-39delinsCCCCCAAGCAG	ENSP00000498056.1:n.6250-49_6250-39delinsCCCCCAAGCAG
ENST00000302640.12:c.6247-49_6247-39delinsCCCCCAAGCAG	ENSP00000306253.8:n.6247-49_6247-39delinsCCCCCAAGCAG
ENST00000354582.10:c.6292-49_6292-39delinsCCCCCAAGCAG	ENSP00000346595.7:n.6292-49_6292-39delinsCCCCCAAGCAG
ENST00000357086.9:c.6148-49_6148-39delinsCCCCCAAGCAG	ENSP00000349597.4:n.6148-49_6148-39delinsCCCCCAAGCAG
ENST00000443694.3:c.6247-49_6247-39delinsCCCCCAAGCAG	ENSP00000401671.2:n.6247-49_6247-39delinsCCCCCAAGCAG
ENST00000456211.7:c.6103-49_6103-39delinsCCCCCAAGCAG	ENSP00000397885.2:n.6103-49_6103-39delinsCCCCCAAGCAG
ENST00000544951.5:c.997-26602_997-26592delinsCCCCCAAGCAG	ENSP00000440564.1:n.997-26602_997-26592delinsCCCCCAAGCAG
NM_001099952.2:c.6148-49_6148-39delinsCCCCCAAGCAG	NP_001093422.2:n.6148-49_6148-39delinsCCCCCAAGCAG
NM_001168272.1:c.6247-49_6247-39delinsCCCCCAAGCAG	NP_001161744.1:n.6247-49_6247-39delinsCCCCCAAGCAG
NM_002222.5:c.6103-49_6103-39delinsCCCCCAAGCAG	NP_002213.5:n.6103-49_6103-39delinsCCCCCAAGCAG
XM_005265109.2:c.6223-49_6223-39delinsCCCCCAAGCAG	XP_005265166.1:n.6223-49_6223-39delinsCCCCCAAGCAG
XM_005265110.2:c.6175-49_6175-39delinsCCCCCAAGCAG	XP_005265167.1:n.6175-49_6175-39delinsCCCCCAAGCAG
XM_006713131.2:c.6226-49_6226-39delinsCCCCCAAGCAG	XP_006713194.1:n.6226-49_6226-39delinsCCCCCAAGCAG
XM_011533681.1:c.6295-49_6295-39delinsCCCCCAAGCAG	XP_011531983.1:n.6295-49_6295-39delinsCCCCCAAGCAG
XM_011533682.1:c.6295-49_6295-39delinsCCCCCAAGCAG	XP_011531984.1:n.6295-49_6295-39delinsCCCCCAAGCAG
XM_011533683.1:c.6292-49_6292-39delinsCCCCCAAGCAG	XP_011531985.1:n.6292-49_6292-39delinsCCCCCAAGCAG
XM_011533684.1:c.6268-49_6268-39delinsCCCCCAAGCAG	XP_011531986.1:n.6268-49_6268-39delinsCCCCCAAGCAG
XM_011533685.1:c.6262-49_6262-39delinsCCCCCAAGCAG	XP_011531987.1:n.6262-49_6262-39delinsCCCCCAAGCAG
XM_011533686.1:c.6259-49_6259-39delinsCCCCCAAGCAG	XP_011531988.1:n.6259-49_6259-39delinsCCCCCAAGCAG
XM_011533687.1:c.6250-49_6250-39delinsCCCCCAAGCAG	XP_011531989.1:n.6250-49_6250-39delinsCCCCCAAGCAG
XM_011533688.1:c.6223-49_6223-39delinsCCCCCAAGCAG	XP_011531990.1:n.6223-49_6223-39delinsCCCCCAAGCAG
XM_011533689.1:c.6184-49_6184-39delinsCCCCCAAGCAG	XP_011531991.1:n.6184-49_6184-39delinsCCCCCAAGCAG
XM_011533690.1:c.6295-49_6295-39delinsCCCCCAAGCAG	XP_011531992.1:n.6295-49_6295-39delinsCCCCCAAGCAG
XM_005265109.3:c.6223-49_6223-39delinsCCCCCAAGCAG	XP_005265166.1:n.6223-49_6223-39delinsCCCCCAAGCAG
XM_005265110.3:c.6175-49_6175-39delinsCCCCCAAGCAG	XP_005265167.1:n.6175-49_6175-39delinsCCCCCAAGCAG
XM_006713131.3:c.6226-49_6226-39delinsCCCCCAAGCAG	XP_006713194.1:n.6226-49_6226-39delinsCCCCCAAGCAG
XM_011533682.3:c.6295-49_6295-39delinsCCCCCAAGCAG	XP_011531984.1:n.6295-49_6295-39delinsCCCCCAAGCAG
XM_011533683.3:c.6292-49_6292-39delinsCCCCCAAGCAG	XP_011531985.1:n.6292-49_6292-39delinsCCCCCAAGCAG
XM_011533684.2:c.6268-49_6268-39delinsCCCCCAAGCAG	XP_011531986.1:n.6268-49_6268-39delinsCCCCCAAGCAG
XM_011533685.2:c.6262-49_6262-39delinsCCCCCAAGCAG	XP_011531987.1:n.6262-49_6262-39delinsCCCCCAAGCAG
XM_011533686.2:c.6259-49_6259-39delinsCCCCCAAGCAG	XP_011531988.1:n.6259-49_6259-39delinsCCCCCAAGCAG
XM_011533687.2:c.6250-49_6250-39delinsCCCCCAAGCAG	XP_011531989.1:n.6250-49_6250-39delinsCCCCCAAGCAG
XM_011533688.2:c.6223-49_6223-39delinsCCCCCAAGCAG	XP_011531990.1:n.6223-49_6223-39delinsCCCCCAAGCAG
XM_011533690.2:c.6295-49_6295-39delinsCCCCCAAGCAG	XP_011531992.1:n.6295-49_6295-39delinsCCCCCAAGCAG
XM_017006357.2:c.6292-49_6292-39delinsCCCCCAAGCAG	XP_016861846.1:n.6292-49_6292-39delinsCCCCCAAGCAG
NM_001099952.3:c.6148-49_6148-39delinsCCCCCAAGCAG	NP_001093422.2:n.6148-49_6148-39delinsCCCCCAAGCAG
NM_002222.6:c.6103-49_6103-39delinsCCCCCAAGCAG	NP_002213.5:n.6103-49_6103-39delinsCCCCCAAGCAG
NM_001099952.4:c.6148-49_6148-39delinsCCCCCAAGCAG	NP_001093422.2:n.6148-49_6148-39delinsCCCCCAAGCAG
NM_001168272.2:c.6247-49_6247-39delinsCCCCCAAGCAG	NP_001161744.1:n.6247-49_6247-39delinsCCCCCAAGCAG
NM_001378452.1:c.6292-49_6292-39delinsCCCCCAAGCAG MANE Select	NP_001365381.1:n.6292-49_6292-39delinsCCCCCAAGCAG
NM_002222.7:c.6103-49_6103-39delinsCCCCCAAGCAG	NP_002213.5:n.6103-49_6103-39delinsCCCCCAAGCAG