Canonical Allele Identifier: CA1315746047

Gene: ORMDL1 PMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189784330_189784331delinsAT , CM000664.2:g.189784330_189784331delinsAT	GRCh38
NC_000002.11:g.190649056_190649057delinsAT , CM000664.1:g.190649056_190649057delinsAT	GRCh37
NC_000002.10:g.190357301_190357302delinsAT	NCBI36
NG_008648.1:g.5246_5247delinsAT , LRG_221:g.5246_5247delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392349.9:c.-180_-179delinsAT (ORMDL1) MANE Select	ENSP00000376160.4:n.-180_-179delinsAT
ENST00000639501.1:c.-284_-283delinsAT (PMS1)	ENSP00000491236.1:n.-284_-283delinsAT
ENST00000392349.8:c.-180_-179delinsAT (ORMDL1)	ENSP00000376160.4:n.-180_-179delinsAT
ENST00000392350.7:c.-70_-69delinsAT (ORMDL1)	ENSP00000376161.3:n.-70_-69delinsAT
ENST00000418224.7:c.-284_-283delinsAT (PMS1)	ENSP00000404492.4:n.-284_-283delinsAT
ENST00000432292.7:c.-526_-525delinsAT (PMS1)	ENSP00000398378.3:n.-526_-525delinsAT
ENST00000618056.4:c.-284_-283delinsAT (PMS1)	ENSP00000480632.1:n.-284_-283delinsAT
ENST00000624204.3:c.-709_-708delinsAT (PMS1)	ENSP00000485312.1:n.-709_-708delinsAT
NM_000534.4:c.-284_-283delinsAT , LRG_221t1:c.-284_-283delinsAT (PMS1)	NP_000525.1:n.-284_-283delinsAT
NM_001128143.1:c.-284_-283delinsAT (PMS1)	NP_001121615.1:n.-284_-283delinsAT
NM_001128144.1:c.-284_-283delinsAT (PMS1)	NP_001121616.1:n.-284_-283delinsAT
NM_001128150.1:c.-70_-69delinsAT (ORMDL1)	NP_001121622.1:n.-70_-69delinsAT
NM_001289408.1:c.-709_-708delinsAT (PMS1)	NP_001276337.1:n.-709_-708delinsAT
NM_001289409.1:c.-526_-525delinsAT (PMS1)	NP_001276338.1:n.-526_-525delinsAT
NM_016467.4:c.-180_-179delinsAT (ORMDL1)	NP_057551.1:n.-180_-179delinsAT
NR_110332.1:n.246_247delinsAT (PMS1)
NM_001321044.1:c.-284_-283delinsAT (PMS1)	NP_001307973.1:n.-284_-283delinsAT
NM_001321045.1:c.-410_-409delinsAT (PMS1)	NP_001307974.1:n.-410_-409delinsAT
NM_001321046.1:c.-284_-283delinsAT (PMS1)	NP_001307975.1:n.-284_-283delinsAT
NM_001321047.1:c.-461_-460delinsAT (PMS1)	NP_001307976.1:n.-461_-460delinsAT
NM_001321048.1:c.-381_-380delinsAT (PMS1)	NP_001307977.1:n.-381_-380delinsAT
NM_001321049.1:c.-284_-283delinsAT (PMS1)	NP_001307978.1:n.-284_-283delinsAT
NM_001321051.1:c.-284_-283delinsAT (PMS1)	NP_001307980.1:n.-284_-283delinsAT
XM_011512199.3:c.-70_-69delinsAT (ORMDL1)	XP_011510501.1:n.-70_-69delinsAT
XM_024452965.1:c.-255_-254delinsAT (PMS1)	XP_024308733.1:n.-255_-254delinsAT
NM_016467.5:c.-180_-179delinsAT (ORMDL1) MANE Select	NP_057551.1:n.-180_-179delinsAT
NM_001128150.2:c.-70_-69delinsAT (ORMDL1)	NP_001121622.1:n.-70_-69delinsAT
NM_001371384.1:c.-70_-69delinsAT (ORMDL1)	NP_001358313.1:n.-70_-69delinsAT
NM_001371385.1:c.-70_-69delinsAT (ORMDL1)	NP_001358314.1:n.-70_-69delinsAT
NM_001371386.1:c.-180_-179delinsAT (ORMDL1)	NP_001358315.1:n.-180_-179delinsAT
NM_001371387.1:c.-70_-69delinsAT (ORMDL1)	NP_001358316.1:n.-70_-69delinsAT
NR_163942.1:n.9_10delinsAT (ORMDL1)