Canonical Allele Identifier: CA656588109

Gene: ORMDL3

Linked Data

• COSMIC: COSN24271621

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926411dup , CM000679.2:g.39926411dup	GRCh38
NC_000017.10:g.38082664dup , CM000679.1:g.38082664dup	GRCh37
NC_000017.9:g.35336190dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1073dup MANE Select	ENSP00000304858.2:n.-23+1073dup
ENST00000304046.6:c.-23+1073dup	ENSP00000304858.2:n.-23+1073dup
ENST00000394169.5:c.-1065dup	ENSP00000377724.1:n.-1065dup
ENST00000579695.5:c.-18+1073dup	ENSP00000464693.1:n.-18+1073dup
ENST00000582052.1:n.31-72dup
ENST00000584000.1:c.-23+656dup	ENSP00000464298.1:n.-23+656dup
NM_139280.2:c.-23+1073dup	NP_644809.1:n.-23+1073dup
XM_005257825.3:c.-23+406dup	XP_005257882.2:n.-23+406dup
XM_005257827.2:c.-18+1073dup	XP_005257884.1:n.-18+1073dup
NM_001320801.1:c.-1065dup	NP_001307730.1:n.-1065dup
NM_001320802.1:c.-18+1073dup	NP_001307731.1:n.-18+1073dup
NM_001320803.1:c.-23+406dup	NP_001307732.1:n.-23+406dup
NM_139280.3:c.-23+1073dup	NP_644809.1:n.-23+1073dup
NM_139280.4:c.-23+1073dup MANE Select	NP_644809.1:n.-23+1073dup
NM_001320802.2:c.-18+1073dup	NP_001307731.1:n.-18+1073dup
NM_001320801.2:c.-1065dup	NP_001307730.1:n.-1065dup