Canonical Allele Identifier: CA771918035

Gene: ORMDL3

Linked Data

• dbSNP Id: rs1269651450
• MyVariant Identifiers: chr17:g.38082348_38082349insACCT (hg19) ; chr17:g.39926095_39926096insACCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926098_39926101dup , CM000679.2:g.39926098_39926101dup	GRCh38
NC_000017.10:g.38082351_38082354dup , CM000679.1:g.38082351_38082354dup	GRCh37
NC_000017.9:g.35335877_35335880dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1385_-23+1388dup MANE Select	ENSP00000304858.2:n.-23+1385_-23+1388dup
ENST00000304046.6:c.-23+1385_-23+1388dup	ENSP00000304858.2:n.-23+1385_-23+1388dup
ENST00000394169.5:c.-753_-750dup	ENSP00000377724.1:n.-753_-750dup
ENST00000579695.5:c.-18+1385_-18+1388dup	ENSP00000464693.1:n.-18+1385_-18+1388dup
ENST00000582052.1:n.271_274dup
ENST00000584000.1:c.-23+968_-23+971dup	ENSP00000464298.1:n.-23+968_-23+971dup
NM_139280.2:c.-23+1385_-23+1388dup	NP_644809.1:n.-23+1385_-23+1388dup
XM_005257825.3:c.-23+718_-23+721dup	XP_005257882.2:n.-23+718_-23+721dup
XM_005257827.2:c.-18+1385_-18+1388dup	XP_005257884.1:n.-18+1385_-18+1388dup
NM_001320801.1:c.-753_-750dup	NP_001307730.1:n.-753_-750dup
NM_001320802.1:c.-18+1385_-18+1388dup	NP_001307731.1:n.-18+1385_-18+1388dup
NM_001320803.1:c.-23+718_-23+721dup	NP_001307732.1:n.-23+718_-23+721dup
NM_139280.3:c.-23+1385_-23+1388dup	NP_644809.1:n.-23+1385_-23+1388dup
NM_139280.4:c.-23+1385_-23+1388dup MANE Select	NP_644809.1:n.-23+1385_-23+1388dup
NM_001320802.2:c.-18+1385_-18+1388dup	NP_001307731.1:n.-18+1385_-18+1388dup
NM_001320801.2:c.-753_-750dup	NP_001307730.1:n.-753_-750dup