Canonical Allele Identifier: CA2259314242

Gene: ORMDL3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926413_39926416delinsTATG , CM000679.2:g.39926413_39926416delinsTATG	GRCh38
NC_000017.10:g.38082666_38082669delinsTATG , CM000679.1:g.38082666_38082669delinsTATG	GRCh37
NC_000017.9:g.35336192_35336195delinsTATG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1068_-23+1071delinsCATA MANE Select	ENSP00000304858.2:n.-23+1068_-23+1071delinsCATA
ENST00000304046.6:c.-23+1068_-23+1071delinsCATA	ENSP00000304858.2:n.-23+1068_-23+1071delinsCATA
ENST00000394169.5:c.-1070_-1067delinsCATA	ENSP00000377724.1:n.-1070_-1067delinsCATA
ENST00000579695.5:c.-18+1068_-18+1071delinsCATA	ENSP00000464693.1:n.-18+1068_-18+1071delinsCATA
ENST00000582052.1:n.31-77_31-74delinsCATA
ENST00000584000.1:c.-23+651_-23+654delinsCATA	ENSP00000464298.1:n.-23+651_-23+654delinsCATA
NM_139280.2:c.-23+1068_-23+1071delinsCATA	NP_644809.1:n.-23+1068_-23+1071delinsCATA
XM_005257825.3:c.-23+401_-23+404delinsCATA	XP_005257882.2:n.-23+401_-23+404delinsCATA
XM_005257827.2:c.-18+1068_-18+1071delinsCATA	XP_005257884.1:n.-18+1068_-18+1071delinsCATA
NM_001320801.1:c.-1070_-1067delinsCATA	NP_001307730.1:n.-1070_-1067delinsCATA
NM_001320802.1:c.-18+1068_-18+1071delinsCATA	NP_001307731.1:n.-18+1068_-18+1071delinsCATA
NM_001320803.1:c.-23+401_-23+404delinsCATA	NP_001307732.1:n.-23+401_-23+404delinsCATA
NM_139280.3:c.-23+1068_-23+1071delinsCATA	NP_644809.1:n.-23+1068_-23+1071delinsCATA
NM_139280.4:c.-23+1068_-23+1071delinsCATA MANE Select	NP_644809.1:n.-23+1068_-23+1071delinsCATA
NM_001320802.2:c.-18+1068_-18+1071delinsCATA	NP_001307731.1:n.-18+1068_-18+1071delinsCATA
NM_001320801.2:c.-1070_-1067delinsCATA	NP_001307730.1:n.-1070_-1067delinsCATA