Canonical Allele Identifier: CA290451176

Gene: ORMDL3

Linked Data

• dbSNP Id: rs1555652221
• MyVariant Identifiers: chr17:g.38082294_38082295insTCTAACTCTGACTAAG (hg19) ; chr17:g.39926041_39926042insTCTAACTCTGACTAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926041_39926042insTCTAACTCTGACTAAG , CM000679.2:g.39926041_39926042insTCTAACTCTGACTAAG	GRCh38
NC_000017.10:g.38082294_38082295insTCTAACTCTGACTAAG , CM000679.1:g.38082294_38082295insTCTAACTCTGACTAAG	GRCh37
NC_000017.9:g.35335820_35335821insTCTAACTCTGACTAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1442_-23+1443insCTTAGTCAGAGTTAGA MANE Select	ENSP00000304858.2:n.-23+1442_-23+1443insCTTAGTCAGAGTTAGA
ENST00000304046.6:c.-23+1442_-23+1443insCTTAGTCAGAGTTAGA	ENSP00000304858.2:n.-23+1442_-23+1443insCTTAGTCAGAGTTAGA
ENST00000394169.5:c.-696_-695insCTTAGTCAGAGTTAGA	ENSP00000377724.1:n.-696_-695insCTTAGTCAGAGTTAGA
ENST00000579695.5:c.-18+1442_-18+1443insCTTAGTCAGAGTTAGA	ENSP00000464693.1:n.-18+1442_-18+1443insCTTAGTCAGAGTTAGA
ENST00000582052.1:n.328_329insCTTAGTCAGAGTTAGA
ENST00000584000.1:c.-23+1025_-23+1026insCTTAGTCAGAGTTAGA	ENSP00000464298.1:n.-23+1025_-23+1026insCTTAGTCAGAGTTAGA
NM_139280.2:c.-23+1442_-23+1443insCTTAGTCAGAGTTAGA	NP_644809.1:n.-23+1442_-23+1443insCTTAGTCAGAGTTAGA
XM_005257825.3:c.-23+775_-23+776insCTTAGTCAGAGTTAGA	XP_005257882.2:n.-23+775_-23+776insCTTAGTCAGAGTTAGA
XM_005257827.2:c.-18+1442_-18+1443insCTTAGTCAGAGTTAGA	XP_005257884.1:n.-18+1442_-18+1443insCTTAGTCAGAGTTAGA
NM_001320801.1:c.-696_-695insCTTAGTCAGAGTTAGA	NP_001307730.1:n.-696_-695insCTTAGTCAGAGTTAGA
NM_001320802.1:c.-18+1442_-18+1443insCTTAGTCAGAGTTAGA	NP_001307731.1:n.-18+1442_-18+1443insCTTAGTCAGAGTTAGA
NM_001320803.1:c.-23+775_-23+776insCTTAGTCAGAGTTAGA	NP_001307732.1:n.-23+775_-23+776insCTTAGTCAGAGTTAGA
NM_139280.3:c.-23+1442_-23+1443insCTTAGTCAGAGTTAGA	NP_644809.1:n.-23+1442_-23+1443insCTTAGTCAGAGTTAGA
NM_139280.4:c.-23+1442_-23+1443insCTTAGTCAGAGTTAGA MANE Select	NP_644809.1:n.-23+1442_-23+1443insCTTAGTCAGAGTTAGA
NM_001320802.2:c.-18+1442_-18+1443insCTTAGTCAGAGTTAGA	NP_001307731.1:n.-18+1442_-18+1443insCTTAGTCAGAGTTAGA
NM_001320801.2:c.-696_-695insCTTAGTCAGAGTTAGA	NP_001307730.1:n.-696_-695insCTTAGTCAGAGTTAGA