Canonical Allele Identifier: CA2259314235

Gene: ORMDL3

Linked Data

• dbSNP Id: rs1978421642
• gnomAD v4: 17-39926401-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926404del , CM000679.2:g.39926404del	GRCh38
NC_000017.10:g.38082657del , CM000679.1:g.38082657del	GRCh37
NC_000017.9:g.35336183del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1082del MANE Select	ENSP00000304858.2:n.-23+1082del
ENST00000304046.6:c.-23+1082del	ENSP00000304858.2:n.-23+1082del
ENST00000394169.5:c.-1056del	ENSP00000377724.1:n.-1056del
ENST00000579695.5:c.-18+1082del	ENSP00000464693.1:n.-18+1082del
ENST00000582052.1:n.31-63del
ENST00000584000.1:c.-23+665del	ENSP00000464298.1:n.-23+665del
NM_139280.2:c.-23+1082del	NP_644809.1:n.-23+1082del
XM_005257825.3:c.-23+415del	XP_005257882.2:n.-23+415del
XM_005257827.2:c.-18+1082del	XP_005257884.1:n.-18+1082del
NM_001320801.1:c.-1056del	NP_001307730.1:n.-1056del
NM_001320802.1:c.-18+1082del	NP_001307731.1:n.-18+1082del
NM_001320803.1:c.-23+415del	NP_001307732.1:n.-23+415del
NM_139280.3:c.-23+1082del	NP_644809.1:n.-23+1082del
NM_139280.4:c.-23+1082del MANE Select	NP_644809.1:n.-23+1082del
NM_001320802.2:c.-18+1082del	NP_001307731.1:n.-18+1082del
NM_001320801.2:c.-1056del	NP_001307730.1:n.-1056del