Canonical Allele Identifier: CA2259314062

Gene: ORMDL3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926031_39926041delinsGGAGAGGGAAA , CM000679.2:g.39926031_39926041delinsGGAGAGGGAAA	GRCh38
NC_000017.10:g.38082284_38082294delinsGGAGAGGGAAA , CM000679.1:g.38082284_38082294delinsGGAGAGGGAAA	GRCh37
NC_000017.9:g.35335810_35335820delinsGGAGAGGGAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1443_-23+1453delinsTTTCCCTCTCC MANE Select	ENSP00000304858.2:n.-23+1443_-23+1453delinsTTTCCCTCTCC
ENST00000304046.6:c.-23+1443_-23+1453delinsTTTCCCTCTCC	ENSP00000304858.2:n.-23+1443_-23+1453delinsTTTCCCTCTCC
ENST00000394169.5:c.-695_-685delinsTTTCCCTCTCC	ENSP00000377724.1:n.-695_-685delinsTTTCCCTCTCC
ENST00000579695.5:c.-18+1443_-18+1453delinsTTTCCCTCTCC	ENSP00000464693.1:n.-18+1443_-18+1453delinsTTTCCCTCTCC
ENST00000582052.1:n.329_339delinsTTTCCCTCTCC
ENST00000584000.1:c.-23+1026_-23+1036delinsTTTCCCTCTCC	ENSP00000464298.1:n.-23+1026_-23+1036delinsTTTCCCTCTCC
NM_139280.2:c.-23+1443_-23+1453delinsTTTCCCTCTCC	NP_644809.1:n.-23+1443_-23+1453delinsTTTCCCTCTCC
XM_005257825.3:c.-23+776_-23+786delinsTTTCCCTCTCC	XP_005257882.2:n.-23+776_-23+786delinsTTTCCCTCTCC
XM_005257827.2:c.-18+1443_-18+1453delinsTTTCCCTCTCC	XP_005257884.1:n.-18+1443_-18+1453delinsTTTCCCTCTCC
NM_001320801.1:c.-695_-685delinsTTTCCCTCTCC	NP_001307730.1:n.-695_-685delinsTTTCCCTCTCC
NM_001320802.1:c.-18+1443_-18+1453delinsTTTCCCTCTCC	NP_001307731.1:n.-18+1443_-18+1453delinsTTTCCCTCTCC
NM_001320803.1:c.-23+776_-23+786delinsTTTCCCTCTCC	NP_001307732.1:n.-23+776_-23+786delinsTTTCCCTCTCC
NM_139280.3:c.-23+1443_-23+1453delinsTTTCCCTCTCC	NP_644809.1:n.-23+1443_-23+1453delinsTTTCCCTCTCC
NM_139280.4:c.-23+1443_-23+1453delinsTTTCCCTCTCC MANE Select	NP_644809.1:n.-23+1443_-23+1453delinsTTTCCCTCTCC
NM_001320802.2:c.-18+1443_-18+1453delinsTTTCCCTCTCC	NP_001307731.1:n.-18+1443_-18+1453delinsTTTCCCTCTCC
NM_001320801.2:c.-695_-685delinsTTTCCCTCTCC	NP_001307730.1:n.-695_-685delinsTTTCCCTCTCC