Canonical Allele Identifier: CA2259314129

Gene: ORMDL3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926187_39926188delinsAC , CM000679.2:g.39926187_39926188delinsAC	GRCh38
NC_000017.10:g.38082440_38082441delinsAC , CM000679.1:g.38082440_38082441delinsAC	GRCh37
NC_000017.9:g.35335966_35335967delinsAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1296_-23+1297delinsGT MANE Select	ENSP00000304858.2:n.-23+1296_-23+1297delinsGT
ENST00000304046.6:c.-23+1296_-23+1297delinsGT	ENSP00000304858.2:n.-23+1296_-23+1297delinsGT
ENST00000394169.5:c.-842_-841delinsGT	ENSP00000377724.1:n.-842_-841delinsGT
ENST00000579695.5:c.-18+1296_-18+1297delinsGT	ENSP00000464693.1:n.-18+1296_-18+1297delinsGT
ENST00000582052.1:n.182_183delinsGT
ENST00000584000.1:c.-23+879_-23+880delinsGT	ENSP00000464298.1:n.-23+879_-23+880delinsGT
NM_139280.2:c.-23+1296_-23+1297delinsGT	NP_644809.1:n.-23+1296_-23+1297delinsGT
XM_005257825.3:c.-23+629_-23+630delinsGT	XP_005257882.2:n.-23+629_-23+630delinsGT
XM_005257827.2:c.-18+1296_-18+1297delinsGT	XP_005257884.1:n.-18+1296_-18+1297delinsGT
NM_001320801.1:c.-842_-841delinsGT	NP_001307730.1:n.-842_-841delinsGT
NM_001320802.1:c.-18+1296_-18+1297delinsGT	NP_001307731.1:n.-18+1296_-18+1297delinsGT
NM_001320803.1:c.-23+629_-23+630delinsGT	NP_001307732.1:n.-23+629_-23+630delinsGT
NM_139280.3:c.-23+1296_-23+1297delinsGT	NP_644809.1:n.-23+1296_-23+1297delinsGT
NM_139280.4:c.-23+1296_-23+1297delinsGT MANE Select	NP_644809.1:n.-23+1296_-23+1297delinsGT
NM_001320802.2:c.-18+1296_-18+1297delinsGT	NP_001307731.1:n.-18+1296_-18+1297delinsGT
NM_001320801.2:c.-842_-841delinsGT	NP_001307730.1:n.-842_-841delinsGT