Canonical Allele Identifier: CA290451195

Gene: ORMDL3

Linked Data

• dbSNP Id: rs201009304
• gnomAD v2: 17-38082294-A-AG
• gnomAD v3: 17-39926041-A-AG
• gnomAD v4: 17-39926041-A-AG
• MyVariant Identifiers: chr17:g.38082294_38082295insG (hg19) ; chr17:g.39926041_39926042insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926042dup , CM000679.2:g.39926042dup	GRCh38
NC_000017.10:g.38082295dup , CM000679.1:g.38082295dup	GRCh37
NC_000017.9:g.35335821dup	NCBI36

Transcript Alleles

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