Canonical Allele Identifier: CA771918081

Gene: ORMDL3

Linked Data

• dbSNP Id: rs1181626304
• MyVariant Identifiers: chr17:g.38082515_38082516insGT (hg19) ; chr17:g.39926262_39926263insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926262_39926263insGT , CM000679.2:g.39926262_39926263insGT	GRCh38
NC_000017.10:g.38082515_38082516insGT , CM000679.1:g.38082515_38082516insGT	GRCh37
NC_000017.9:g.35336041_35336042insGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1221_-23+1222insAC MANE Select	ENSP00000304858.2:n.-23+1221_-23+1222insAC
ENST00000304046.6:c.-23+1221_-23+1222insAC	ENSP00000304858.2:n.-23+1221_-23+1222insAC
ENST00000394169.5:c.-917_-916insAC	ENSP00000377724.1:n.-917_-916insAC
ENST00000579695.5:c.-18+1221_-18+1222insAC	ENSP00000464693.1:n.-18+1221_-18+1222insAC
ENST00000582052.1:n.107_108insAC
ENST00000584000.1:c.-23+804_-23+805insAC	ENSP00000464298.1:n.-23+804_-23+805insAC
NM_139280.2:c.-23+1221_-23+1222insAC	NP_644809.1:n.-23+1221_-23+1222insAC
XM_005257825.3:c.-23+554_-23+555insAC	XP_005257882.2:n.-23+554_-23+555insAC
XM_005257827.2:c.-18+1221_-18+1222insAC	XP_005257884.1:n.-18+1221_-18+1222insAC
NM_001320801.1:c.-917_-916insAC	NP_001307730.1:n.-917_-916insAC
NM_001320802.1:c.-18+1221_-18+1222insAC	NP_001307731.1:n.-18+1221_-18+1222insAC
NM_001320803.1:c.-23+554_-23+555insAC	NP_001307732.1:n.-23+554_-23+555insAC
NM_139280.3:c.-23+1221_-23+1222insAC	NP_644809.1:n.-23+1221_-23+1222insAC
NM_139280.4:c.-23+1221_-23+1222insAC MANE Select	NP_644809.1:n.-23+1221_-23+1222insAC
NM_001320802.2:c.-18+1221_-18+1222insAC	NP_001307731.1:n.-18+1221_-18+1222insAC
NM_001320801.2:c.-917_-916insAC	NP_001307730.1:n.-917_-916insAC