Canonical Allele Identifier: CA290451156

Gene: ORMDL3

Linked Data

• dbSNP Id: rs796737209

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926037_39926041delinsTTAAGTCTAACTCTGACTAAG , CM000679.2:g.39926037_39926041delinsTTAAGTCTAACTCTGACTAAG	GRCh38
NC_000017.10:g.38082290_38082294delinsTTAAGTCTAACTCTGACTAAG , CM000679.1:g.38082290_38082294delinsTTAAGTCTAACTCTGACTAAG	GRCh37
NC_000017.9:g.35335816_35335820delinsTTAAGTCTAACTCTGACTAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1443_-23+1447delinsCTTAGTCAGAGTTAGACTTAA MANE Select	ENSP00000304858.2:n.-23+1443_-23+1447delinsCTTAGTCAGAGTTAGACT...
ENST00000304046.6:c.-23+1443_-23+1447delinsCTTAGTCAGAGTTAGACTTAA	ENSP00000304858.2:n.-23+1443_-23+1447delinsCTTAGTCAGAGTTAGACT...
ENST00000394169.5:c.-695_-691delinsCTTAGTCAGAGTTAGACTTAA	ENSP00000377724.1:n.-695_-691delinsCTTAGTCAGAGTTAGACTTAA
ENST00000579695.5:c.-18+1443_-18+1447delinsCTTAGTCAGAGTTAGACTTAA	ENSP00000464693.1:n.-18+1443_-18+1447delinsCTTAGTCAGAGTTAGACT...
ENST00000582052.1:n.329_333delinsCTTAGTCAGAGTTAGACTTAA
ENST00000584000.1:c.-23+1026_-23+1030delinsCTTAGTCAGAGTTAGACTTAA	ENSP00000464298.1:n.-23+1026_-23+1030delinsCTTAGTCAGAGTTAGACT...
NM_139280.2:c.-23+1443_-23+1447delinsCTTAGTCAGAGTTAGACTTAA	NP_644809.1:n.-23+1443_-23+1447delinsCTTAGTCAGAGTTAGACTTAA
XM_005257825.3:c.-23+776_-23+780delinsCTTAGTCAGAGTTAGACTTAA	XP_005257882.2:n.-23+776_-23+780delinsCTTAGTCAGAGTTAGACTTAA
XM_005257827.2:c.-18+1443_-18+1447delinsCTTAGTCAGAGTTAGACTTAA	XP_005257884.1:n.-18+1443_-18+1447delinsCTTAGTCAGAGTTAGACTTAA...
NM_001320801.1:c.-695_-691delinsCTTAGTCAGAGTTAGACTTAA	NP_001307730.1:n.-695_-691delinsCTTAGTCAGAGTTAGACTTAA
NM_001320802.1:c.-18+1443_-18+1447delinsCTTAGTCAGAGTTAGACTTAA	NP_001307731.1:n.-18+1443_-18+1447delinsCTTAGTCAGAGTTAGACTTAA...
NM_001320803.1:c.-23+776_-23+780delinsCTTAGTCAGAGTTAGACTTAA	NP_001307732.1:n.-23+776_-23+780delinsCTTAGTCAGAGTTAGACTTAA
NM_139280.3:c.-23+1443_-23+1447delinsCTTAGTCAGAGTTAGACTTAA	NP_644809.1:n.-23+1443_-23+1447delinsCTTAGTCAGAGTTAGACTTAA
NM_139280.4:c.-23+1443_-23+1447delinsCTTAGTCAGAGTTAGACTTAA MANE Select	NP_644809.1:n.-23+1443_-23+1447delinsCTTAGTCAGAGTTAGACTTAA
NM_001320802.2:c.-18+1443_-18+1447delinsCTTAGTCAGAGTTAGACTTAA	NP_001307731.1:n.-18+1443_-18+1447delinsCTTAGTCAGAGTTAGACTTAA...
NM_001320801.2:c.-695_-691delinsCTTAGTCAGAGTTAGACTTAA	NP_001307730.1:n.-695_-691delinsCTTAGTCAGAGTTAGACTTAA