Canonical Allele Identifier: CA2259314218

Gene: ORMDL3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926366_39926378delinsACAAAAAGACTGG , CM000679.2:g.39926366_39926378delinsACAAAAAGACTGG	GRCh38
NC_000017.10:g.38082619_38082631delinsACAAAAAGACTGG , CM000679.1:g.38082619_38082631delinsACAAAAAGACTGG	GRCh37
NC_000017.9:g.35336145_35336157delinsACAAAAAGACTGG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000304046.7:c.-23+1106_-23+1118delinsCCAGTCTTTTTGT MANE Select	ENSP00000304858.2:n.-23+1106_-23+1118delinsCCAGTCTTTTTGT
ENST00000304046.6:c.-23+1106_-23+1118delinsCCAGTCTTTTTGT	ENSP00000304858.2:n.-23+1106_-23+1118delinsCCAGTCTTTTTGT
ENST00000394169.5:c.-1032_-1020delinsCCAGTCTTTTTGT	ENSP00000377724.1:n.-1032_-1020delinsCCAGTCTTTTTGT
ENST00000579695.5:c.-18+1106_-18+1118delinsCCAGTCTTTTTGT	ENSP00000464693.1:n.-18+1106_-18+1118delinsCCAGTCTTTTTGT
ENST00000582052.1:n.31-39_31-27delinsCCAGTCTTTTTGT
ENST00000584000.1:c.-23+689_-23+701delinsCCAGTCTTTTTGT	ENSP00000464298.1:n.-23+689_-23+701delinsCCAGTCTTTTTGT
NM_139280.2:c.-23+1106_-23+1118delinsCCAGTCTTTTTGT	NP_644809.1:n.-23+1106_-23+1118delinsCCAGTCTTTTTGT
XM_005257825.3:c.-23+439_-23+451delinsCCAGTCTTTTTGT	XP_005257882.2:n.-23+439_-23+451delinsCCAGTCTTTTTGT
XM_005257827.2:c.-18+1106_-18+1118delinsCCAGTCTTTTTGT	XP_005257884.1:n.-18+1106_-18+1118delinsCCAGTCTTTTTGT
NM_001320801.1:c.-1032_-1020delinsCCAGTCTTTTTGT	NP_001307730.1:n.-1032_-1020delinsCCAGTCTTTTTGT
NM_001320802.1:c.-18+1106_-18+1118delinsCCAGTCTTTTTGT	NP_001307731.1:n.-18+1106_-18+1118delinsCCAGTCTTTTTGT
NM_001320803.1:c.-23+439_-23+451delinsCCAGTCTTTTTGT	NP_001307732.1:n.-23+439_-23+451delinsCCAGTCTTTTTGT
NM_139280.3:c.-23+1106_-23+1118delinsCCAGTCTTTTTGT	NP_644809.1:n.-23+1106_-23+1118delinsCCAGTCTTTTTGT
NM_139280.4:c.-23+1106_-23+1118delinsCCAGTCTTTTTGT MANE Select	NP_644809.1:n.-23+1106_-23+1118delinsCCAGTCTTTTTGT
NM_001320802.2:c.-18+1106_-18+1118delinsCCAGTCTTTTTGT	NP_001307731.1:n.-18+1106_-18+1118delinsCCAGTCTTTTTGT
NM_001320801.2:c.-1032_-1020delinsCCAGTCTTTTTGT	NP_001307730.1:n.-1032_-1020delinsCCAGTCTTTTTGT