Canonical Allele Identifier: CA919839043
Gene: ORMDL3 HGNC NCBI

Linked Data

dbSNP Id: rs1598287855

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39926194dup , CM000679.2:g.39926194dup GRCh38
NC_000017.10:g.38082447dup , CM000679.1:g.38082447dup GRCh37
NC_000017.9:g.35335973dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000304046.7:c.-23+1290dup MANE Select ENSP00000304858.2:n.-23+1290dup
ENST00000304046.6:c.-23+1290dup ENSP00000304858.2:n.-23+1290dup
ENST00000394169.5:c.-848dup ENSP00000377724.1:n.-848dup
ENST00000579695.5:c.-18+1290dup ENSP00000464693.1:n.-18+1290dup
ENST00000582052.1:n.176dup
ENST00000584000.1:c.-23+873dup ENSP00000464298.1:n.-23+873dup
NM_139280.2:c.-23+1290dup NP_644809.1:n.-23+1290dup
XM_005257825.3:c.-23+623dup XP_005257882.2:n.-23+623dup
XM_005257827.2:c.-18+1290dup XP_005257884.1:n.-18+1290dup
NM_001320801.1:c.-848dup NP_001307730.1:n.-848dup
NM_001320802.1:c.-18+1290dup NP_001307731.1:n.-18+1290dup
NM_001320803.1:c.-23+623dup NP_001307732.1:n.-23+623dup
NM_139280.3:c.-23+1290dup NP_644809.1:n.-23+1290dup
NM_139280.4:c.-23+1290dup MANE Select NP_644809.1:n.-23+1290dup
NM_001320802.2:c.-18+1290dup NP_001307731.1:n.-18+1290dup
NM_001320801.2:c.-848dup NP_001307730.1:n.-848dup