Canonical Allele Identifier: CA2259314234

Gene: ORMDL3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926401_39926402delinsCT , CM000679.2:g.39926401_39926402delinsCT	GRCh38
NC_000017.10:g.38082654_38082655delinsCT , CM000679.1:g.38082654_38082655delinsCT	GRCh37
NC_000017.9:g.35336180_35336181delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1082_-23+1083delinsAG MANE Select	ENSP00000304858.2:n.-23+1082_-23+1083delinsAG
ENST00000304046.6:c.-23+1082_-23+1083delinsAG	ENSP00000304858.2:n.-23+1082_-23+1083delinsAG
ENST00000394169.5:c.-1056_-1055delinsAG	ENSP00000377724.1:n.-1056_-1055delinsAG
ENST00000579695.5:c.-18+1082_-18+1083delinsAG	ENSP00000464693.1:n.-18+1082_-18+1083delinsAG
ENST00000582052.1:n.31-63_31-62delinsAG
ENST00000584000.1:c.-23+665_-23+666delinsAG	ENSP00000464298.1:n.-23+665_-23+666delinsAG
NM_139280.2:c.-23+1082_-23+1083delinsAG	NP_644809.1:n.-23+1082_-23+1083delinsAG
XM_005257825.3:c.-23+415_-23+416delinsAG	XP_005257882.2:n.-23+415_-23+416delinsAG
XM_005257827.2:c.-18+1082_-18+1083delinsAG	XP_005257884.1:n.-18+1082_-18+1083delinsAG
NM_001320801.1:c.-1056_-1055delinsAG	NP_001307730.1:n.-1056_-1055delinsAG
NM_001320802.1:c.-18+1082_-18+1083delinsAG	NP_001307731.1:n.-18+1082_-18+1083delinsAG
NM_001320803.1:c.-23+415_-23+416delinsAG	NP_001307732.1:n.-23+415_-23+416delinsAG
NM_139280.3:c.-23+1082_-23+1083delinsAG	NP_644809.1:n.-23+1082_-23+1083delinsAG
NM_139280.4:c.-23+1082_-23+1083delinsAG MANE Select	NP_644809.1:n.-23+1082_-23+1083delinsAG
NM_001320802.2:c.-18+1082_-18+1083delinsAG	NP_001307731.1:n.-18+1082_-18+1083delinsAG
NM_001320801.2:c.-1056_-1055delinsAG	NP_001307730.1:n.-1056_-1055delinsAG