Canonical Allele Identifier: CA2259314219

Gene: ORMDL3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926366_39926367delinsAC , CM000679.2:g.39926366_39926367delinsAC	GRCh38
NC_000017.10:g.38082619_38082620delinsAC , CM000679.1:g.38082619_38082620delinsAC	GRCh37
NC_000017.9:g.35336145_35336146delinsAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1117_-23+1118delinsGT MANE Select	ENSP00000304858.2:n.-23+1117_-23+1118delinsGT
ENST00000304046.6:c.-23+1117_-23+1118delinsGT	ENSP00000304858.2:n.-23+1117_-23+1118delinsGT
ENST00000394169.5:c.-1021_-1020delinsGT	ENSP00000377724.1:n.-1021_-1020delinsGT
ENST00000579695.5:c.-18+1117_-18+1118delinsGT	ENSP00000464693.1:n.-18+1117_-18+1118delinsGT
ENST00000582052.1:n.31-28_31-27delinsGT
ENST00000584000.1:c.-23+700_-23+701delinsGT	ENSP00000464298.1:n.-23+700_-23+701delinsGT
NM_139280.2:c.-23+1117_-23+1118delinsGT	NP_644809.1:n.-23+1117_-23+1118delinsGT
XM_005257825.3:c.-23+450_-23+451delinsGT	XP_005257882.2:n.-23+450_-23+451delinsGT
XM_005257827.2:c.-18+1117_-18+1118delinsGT	XP_005257884.1:n.-18+1117_-18+1118delinsGT
NM_001320801.1:c.-1021_-1020delinsGT	NP_001307730.1:n.-1021_-1020delinsGT
NM_001320802.1:c.-18+1117_-18+1118delinsGT	NP_001307731.1:n.-18+1117_-18+1118delinsGT
NM_001320803.1:c.-23+450_-23+451delinsGT	NP_001307732.1:n.-23+450_-23+451delinsGT
NM_139280.3:c.-23+1117_-23+1118delinsGT	NP_644809.1:n.-23+1117_-23+1118delinsGT
NM_139280.4:c.-23+1117_-23+1118delinsGT MANE Select	NP_644809.1:n.-23+1117_-23+1118delinsGT
NM_001320802.2:c.-18+1117_-18+1118delinsGT	NP_001307731.1:n.-18+1117_-18+1118delinsGT
NM_001320801.2:c.-1021_-1020delinsGT	NP_001307730.1:n.-1021_-1020delinsGT