Canonical Allele Identifier: CA290451155

Gene: ORMDL3

Linked Data

• dbSNP Id: rs138928089
• gnomAD v3: 17-39926031-GGAGAGGGAAA-G
• gnomAD v4: 17-39926031-GGAGAGGGAAA-G
• MyVariant Identifiers: chr17:g.38082285_38082294del (hg19) ; chr17:g.39926032_39926041del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926035_39926044del , CM000679.2:g.39926035_39926044del	GRCh38
NC_000017.10:g.38082288_38082297del , CM000679.1:g.38082288_38082297del	GRCh37
NC_000017.9:g.35335814_35335823del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1443_-23+1452del MANE Select	ENSP00000304858.2:n.-23+1443_-23+1452del
ENST00000304046.6:c.-23+1443_-23+1452del	ENSP00000304858.2:n.-23+1443_-23+1452del
ENST00000394169.5:c.-695_-686del	ENSP00000377724.1:n.-695_-686del
ENST00000579695.5:c.-18+1443_-18+1452del	ENSP00000464693.1:n.-18+1443_-18+1452del
ENST00000582052.1:n.329_338del
ENST00000584000.1:c.-23+1026_-23+1035del	ENSP00000464298.1:n.-23+1026_-23+1035del
NM_139280.2:c.-23+1443_-23+1452del	NP_644809.1:n.-23+1443_-23+1452del
XM_005257825.3:c.-23+776_-23+785del	XP_005257882.2:n.-23+776_-23+785del
XM_005257827.2:c.-18+1443_-18+1452del	XP_005257884.1:n.-18+1443_-18+1452del
NM_001320801.1:c.-695_-686del	NP_001307730.1:n.-695_-686del
NM_001320802.1:c.-18+1443_-18+1452del	NP_001307731.1:n.-18+1443_-18+1452del
NM_001320803.1:c.-23+776_-23+785del	NP_001307732.1:n.-23+776_-23+785del
NM_139280.3:c.-23+1443_-23+1452del	NP_644809.1:n.-23+1443_-23+1452del
NM_139280.4:c.-23+1443_-23+1452del MANE Select	NP_644809.1:n.-23+1443_-23+1452del
NM_001320802.2:c.-18+1443_-18+1452del	NP_001307731.1:n.-18+1443_-18+1452del
NM_001320801.2:c.-695_-686del	NP_001307730.1:n.-695_-686del