Canonical Allele Identifier: CA625945618

Gene: ORMDL3

Linked Data

• dbSNP Id: rs1183924259
• gnomAD v2: 17-38082292-A-ACT
• gnomAD v3: 17-39926039-A-ACT
• gnomAD v4: 17-39926039-A-ACT
• MyVariant Identifiers: chr17:g.38082292_38082293insCT (hg19) ; chr17:g.39926039_39926040insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926039_39926040insCT , CM000679.2:g.39926039_39926040insCT	GRCh38
NC_000017.10:g.38082292_38082293insCT , CM000679.1:g.38082292_38082293insCT	GRCh37
NC_000017.9:g.35335818_35335819insCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1444_-23+1445insAG MANE Select	ENSP00000304858.2:n.-23+1444_-23+1445insAG
ENST00000304046.6:c.-23+1444_-23+1445insAG	ENSP00000304858.2:n.-23+1444_-23+1445insAG
ENST00000394169.5:c.-694_-693insAG	ENSP00000377724.1:n.-694_-693insAG
ENST00000579695.5:c.-18+1444_-18+1445insAG	ENSP00000464693.1:n.-18+1444_-18+1445insAG
ENST00000582052.1:n.330_331insAG
ENST00000584000.1:c.-23+1027_-23+1028insAG	ENSP00000464298.1:n.-23+1027_-23+1028insAG
NM_139280.2:c.-23+1444_-23+1445insAG	NP_644809.1:n.-23+1444_-23+1445insAG
XM_005257825.3:c.-23+777_-23+778insAG	XP_005257882.2:n.-23+777_-23+778insAG
XM_005257827.2:c.-18+1444_-18+1445insAG	XP_005257884.1:n.-18+1444_-18+1445insAG
NM_001320801.1:c.-694_-693insAG	NP_001307730.1:n.-694_-693insAG
NM_001320802.1:c.-18+1444_-18+1445insAG	NP_001307731.1:n.-18+1444_-18+1445insAG
NM_001320803.1:c.-23+777_-23+778insAG	NP_001307732.1:n.-23+777_-23+778insAG
NM_139280.3:c.-23+1444_-23+1445insAG	NP_644809.1:n.-23+1444_-23+1445insAG
NM_139280.4:c.-23+1444_-23+1445insAG MANE Select	NP_644809.1:n.-23+1444_-23+1445insAG
NM_001320802.2:c.-18+1444_-18+1445insAG	NP_001307731.1:n.-18+1444_-18+1445insAG
NM_001320801.2:c.-694_-693insAG	NP_001307730.1:n.-694_-693insAG