Canonical Allele Identifier: CA2259314070

Gene: ORMDL3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926036_39926041delinsGGGAAA , CM000679.2:g.39926036_39926041delinsGGGAAA	GRCh38
NC_000017.10:g.38082289_38082294delinsGGGAAA , CM000679.1:g.38082289_38082294delinsGGGAAA	GRCh37
NC_000017.9:g.35335815_35335820delinsGGGAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1443_-23+1448delinsTTTCCC MANE Select	ENSP00000304858.2:n.-23+1443_-23+1448delinsTTTCCC
ENST00000304046.6:c.-23+1443_-23+1448delinsTTTCCC	ENSP00000304858.2:n.-23+1443_-23+1448delinsTTTCCC
ENST00000394169.5:c.-695_-690delinsTTTCCC	ENSP00000377724.1:n.-695_-690delinsTTTCCC
ENST00000579695.5:c.-18+1443_-18+1448delinsTTTCCC	ENSP00000464693.1:n.-18+1443_-18+1448delinsTTTCCC
ENST00000582052.1:n.329_334delinsTTTCCC
ENST00000584000.1:c.-23+1026_-23+1031delinsTTTCCC	ENSP00000464298.1:n.-23+1026_-23+1031delinsTTTCCC
NM_139280.2:c.-23+1443_-23+1448delinsTTTCCC	NP_644809.1:n.-23+1443_-23+1448delinsTTTCCC
XM_005257825.3:c.-23+776_-23+781delinsTTTCCC	XP_005257882.2:n.-23+776_-23+781delinsTTTCCC
XM_005257827.2:c.-18+1443_-18+1448delinsTTTCCC	XP_005257884.1:n.-18+1443_-18+1448delinsTTTCCC
NM_001320801.1:c.-695_-690delinsTTTCCC	NP_001307730.1:n.-695_-690delinsTTTCCC
NM_001320802.1:c.-18+1443_-18+1448delinsTTTCCC	NP_001307731.1:n.-18+1443_-18+1448delinsTTTCCC
NM_001320803.1:c.-23+776_-23+781delinsTTTCCC	NP_001307732.1:n.-23+776_-23+781delinsTTTCCC
NM_139280.3:c.-23+1443_-23+1448delinsTTTCCC	NP_644809.1:n.-23+1443_-23+1448delinsTTTCCC
NM_139280.4:c.-23+1443_-23+1448delinsTTTCCC MANE Select	NP_644809.1:n.-23+1443_-23+1448delinsTTTCCC
NM_001320802.2:c.-18+1443_-18+1448delinsTTTCCC	NP_001307731.1:n.-18+1443_-18+1448delinsTTTCCC
NM_001320801.2:c.-695_-690delinsTTTCCC	NP_001307730.1:n.-695_-690delinsTTTCCC