Canonical Allele Identifier: CA2809448834

Gene: ORMDL3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926392_39926393insAGC , CM000679.2:g.39926392_39926393insAGC	GRCh38
NC_000017.10:g.38082645_38082646insAGC , CM000679.1:g.38082645_38082646insAGC	GRCh37
NC_000017.9:g.35336171_35336172insAGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1092_-23+1093insCTG MANE Select	ENSP00000304858.2:n.-23+1092_-23+1093insCTG
ENST00000304046.6:c.-23+1092_-23+1093insCTG	ENSP00000304858.2:n.-23+1092_-23+1093insCTG
ENST00000394169.5:c.-1046_-1045insCTG	ENSP00000377724.1:n.-1046_-1045insCTG
ENST00000579695.5:c.-18+1092_-18+1093insCTG	ENSP00000464693.1:n.-18+1092_-18+1093insCTG
ENST00000582052.1:n.31-53_31-52insCTG
ENST00000584000.1:c.-23+675_-23+676insCTG	ENSP00000464298.1:n.-23+675_-23+676insCTG
NM_139280.2:c.-23+1092_-23+1093insCTG	NP_644809.1:n.-23+1092_-23+1093insCTG
XM_005257825.3:c.-23+425_-23+426insCTG	XP_005257882.2:n.-23+425_-23+426insCTG
XM_005257827.2:c.-18+1092_-18+1093insCTG	XP_005257884.1:n.-18+1092_-18+1093insCTG
NM_001320801.1:c.-1046_-1045insCTG	NP_001307730.1:n.-1046_-1045insCTG
NM_001320802.1:c.-18+1092_-18+1093insCTG	NP_001307731.1:n.-18+1092_-18+1093insCTG
NM_001320803.1:c.-23+425_-23+426insCTG	NP_001307732.1:n.-23+425_-23+426insCTG
NM_139280.3:c.-23+1092_-23+1093insCTG	NP_644809.1:n.-23+1092_-23+1093insCTG
NM_139280.4:c.-23+1092_-23+1093insCTG MANE Select	NP_644809.1:n.-23+1092_-23+1093insCTG
NM_001320802.2:c.-18+1092_-18+1093insCTG	NP_001307731.1:n.-18+1092_-18+1093insCTG
NM_001320801.2:c.-1046_-1045insCTG	NP_001307730.1:n.-1046_-1045insCTG