Canonical Allele Identifier: CA2755057563

Gene: ITPR1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.4788077_4788078insAACCAAACACACCCAACACA , CM000665.2:g.4788077_4788078insAACCAAACACACCCAACACA	GRCh38
NC_000003.11:g.4829761_4829762insAACCAAACACACCCAACACA , CM000665.1:g.4829761_4829762insAACCAAACACACCCAACACA	GRCh37
NC_000003.10:g.4804761_4804762insAACCAAACACACCCAACACA	NCBI36
NG_016144.1:g.299730_299731insAACCAAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302640.13:c.6757_6758insAACCAAACACACCCAACACA	ENSP00000306253.9:n.6757_6758insAACCAAACACACCCAACACA
ENST00000354582.12:c.6722_6723insAACCAAACACACCCAACACA	ENSP00000346595.8:p.Asn2241LysfsTer21
ENST00000443694.5:c.6701_6702insAACCAAACACACCCAACACA	ENSP00000401671.2:p.Asn2234LysfsTer21
ENST00000354582.11:c.6722_6723insAACCAAACACACCCAACACA	ENSP00000346595.8:p.Asn2241LysfsTer21
ENST00000357086.10:c.6602_6603insAACCAAACACACCCAACACA	ENSP00000349597.4:p.Asn2201LysfsTer21
ENST00000443694.4:c.6701_6702insAACCAAACACACCCAACACA	ENSP00000401671.2:p.Asn2234LysfsTer21
ENST00000456211.8:c.6557_6558insAACCAAACACACCCAACACA	ENSP00000397885.2:p.Asn2186LysfsTer21
ENST00000481415.2:n.638_639insAACCAAACACACCCAACACA
ENST00000544951.6:c.997-18026_997-18025insAACCAAACACACCCAACACA	ENSP00000440564.1:n.997-18026_997-18025insAACCAAACACACCCAACAC...
ENST00000647708.1:c.2645_2646insAACCAAACACACCCAACACA
ENST00000647717.1:n.4250_4251insAACCAAACACACCCAACACA
ENST00000648016.1:c.3081_3082insAACCAAACACACCCAACACA
ENST00000648038.1:c.4508_4509insAACCAAACACACCCAACACA	ENSP00000497872.1:p.Asn1503LysfsTer21
ENST00000648212.1:c.3654_3655insAACCAAACACACCCAACACA
ENST00000648266.1:c.6719_6720insAACCAAACACACCCAACACA	ENSP00000498014.1:p.Asn2240LysfsTer21
ENST00000648309.1:c.6674_6675insAACCAAACACACCCAACACA	ENSP00000497026.1:p.Asn2225LysfsTer21
ENST00000648390.1:c.447-58062_447-58061insAACCAAACACACCCAACACA
ENST00000648431.1:c.4048_4049insAACCAAACACACCCAACACA
ENST00000648510.1:n.580_581insAACCAAACACACCCAACACA
ENST00000649015.2:c.6746_6747insAACCAAACACACCCAACACA MANE Select	ENSP00000497605.1:p.Asn2249LysfsTer21
ENST00000649144.1:n.1794_1795insAACCAAACACACCCAACACA
ENST00000649272.1:n.308_309insAACCAAACACACCCAACACA
ENST00000649694.1:n.4231_4232insAACCAAACACACCCAACACA
ENST00000650294.1:c.6704_6705insAACCAAACACACCCAACACA	ENSP00000498056.1:p.Asn2235LysfsTer21
ENST00000302640.12:c.6701_6702insAACCAAACACACCCAACACA	ENSP00000306253.8:p.Asn2234LysfsTer21
ENST00000354582.10:c.6746_6747insAACCAAACACACCCAACACA	ENSP00000346595.7:p.Asn2249LysfsTer21
ENST00000357086.9:c.6602_6603insAACCAAACACACCCAACACA	ENSP00000349597.4:p.Asn2201LysfsTer21
ENST00000443694.3:c.6701_6702insAACCAAACACACCCAACACA	ENSP00000401671.2:p.Asn2234LysfsTer21
ENST00000456211.7:c.6557_6558insAACCAAACACACCCAACACA	ENSP00000397885.2:p.Asn2186LysfsTer21
ENST00000544951.5:c.997-18026_997-18025insAACCAAACACACCCAACACA	ENSP00000440564.1:n.997-18026_997-18025insAACCAAACACACCCAACAC...
NM_001099952.2:c.6602_6603insAACCAAACACACCCAACACA	NP_001093422.2:p.Asn2201LysfsTer21
NM_001168272.1:c.6701_6702insAACCAAACACACCCAACACA	NP_001161744.1:p.Asn2234LysfsTer21
NM_002222.5:c.6557_6558insAACCAAACACACCCAACACA	NP_002213.5:p.Asn2186LysfsTer21
XM_005265109.2:c.6677_6678insAACCAAACACACCCAACACA	XP_005265166.1:p.Asn2226LysfsTer21
XM_005265110.2:c.6629_6630insAACCAAACACACCCAACACA	XP_005265167.1:p.Asn2210LysfsTer21
XM_006713131.2:c.6680_6681insAACCAAACACACCCAACACA	XP_006713194.1:p.Asn2227LysfsTer21
XM_011533681.1:c.6749_6750insAACCAAACACACCCAACACA	XP_011531983.1:p.Asn2250LysfsTer21
XM_011533682.1:c.6749_6750insAACCAAACACACCCAACACA	XP_011531984.1:p.Asn2250LysfsTer21
XM_011533683.1:c.6746_6747insAACCAAACACACCCAACACA	XP_011531985.1:p.Asn2249LysfsTer21
XM_011533684.1:c.6722_6723insAACCAAACACACCCAACACA	XP_011531986.1:p.Asn2241LysfsTer21
XM_011533685.1:c.6716_6717insAACCAAACACACCCAACACA	XP_011531987.1:p.Asn2239LysfsTer21
XM_011533686.1:c.6713_6714insAACCAAACACACCCAACACA	XP_011531988.1:p.Asn2238LysfsTer21
XM_011533687.1:c.6704_6705insAACCAAACACACCCAACACA	XP_011531989.1:p.Asn2235LysfsTer21
XM_011533688.1:c.6677_6678insAACCAAACACACCCAACACA	XP_011531990.1:p.Asn2226LysfsTer21
XM_011533689.1:c.6638_6639insAACCAAACACACCCAACACA	XP_011531991.1:p.Asn2213LysfsTer21
XM_011533690.1:c.6749_6750insAACCAAACACACCCAACACA	XP_011531992.1:p.Asn2250LysfsTer21
XM_005265109.3:c.6677_6678insAACCAAACACACCCAACACA	XP_005265166.1:p.Asn2226LysfsTer21
XM_005265110.3:c.6629_6630insAACCAAACACACCCAACACA	XP_005265167.1:p.Asn2210LysfsTer21
XM_006713131.3:c.6680_6681insAACCAAACACACCCAACACA	XP_006713194.1:p.Asn2227LysfsTer21
XM_011533682.3:c.6749_6750insAACCAAACACACCCAACACA	XP_011531984.1:p.Asn2250LysfsTer21
XM_011533683.3:c.6746_6747insAACCAAACACACCCAACACA	XP_011531985.1:p.Asn2249LysfsTer21
XM_011533684.2:c.6722_6723insAACCAAACACACCCAACACA	XP_011531986.1:p.Asn2241LysfsTer21
XM_011533685.2:c.6716_6717insAACCAAACACACCCAACACA	XP_011531987.1:p.Asn2239LysfsTer21
XM_011533686.2:c.6713_6714insAACCAAACACACCCAACACA	XP_011531988.1:p.Asn2238LysfsTer21
XM_011533687.2:c.6704_6705insAACCAAACACACCCAACACA	XP_011531989.1:p.Asn2235LysfsTer21
XM_011533688.2:c.6677_6678insAACCAAACACACCCAACACA	XP_011531990.1:p.Asn2226LysfsTer21
XM_011533690.2:c.6749_6750insAACCAAACACACCCAACACA	XP_011531992.1:p.Asn2250LysfsTer21
XM_017006357.2:c.6746_6747insAACCAAACACACCCAACACA	XP_016861846.1:p.Asn2249LysfsTer21
NM_001099952.3:c.6602_6603insAACCAAACACACCCAACACA	NP_001093422.2:p.Asn2201LysfsTer21
NM_002222.6:c.6557_6558insAACCAAACACACCCAACACA	NP_002213.5:p.Asn2186LysfsTer21
NM_001099952.4:c.6602_6603insAACCAAACACACCCAACACA	NP_001093422.2:p.Asn2201LysfsTer21
NM_001168272.2:c.6701_6702insAACCAAACACACCCAACACA	NP_001161744.1:p.Asn2234LysfsTer21
NM_001378452.1:c.6746_6747insAACCAAACACACCCAACACA MANE Select	NP_001365381.1:p.Asn2249LysfsTer21
NM_002222.7:c.6557_6558insAACCAAACACACCCAACACA	NP_002213.5:p.Asn2186LysfsTer21