Canonical Allele Identifier: CA2259314161

Gene: ORMDL3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926261_39926262delinsTC , CM000679.2:g.39926261_39926262delinsTC	GRCh38
NC_000017.10:g.38082514_38082515delinsTC , CM000679.1:g.38082514_38082515delinsTC	GRCh37
NC_000017.9:g.35336040_35336041delinsTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1222_-23+1223delinsGA MANE Select	ENSP00000304858.2:n.-23+1222_-23+1223delinsGA
ENST00000304046.6:c.-23+1222_-23+1223delinsGA	ENSP00000304858.2:n.-23+1222_-23+1223delinsGA
ENST00000394169.5:c.-916_-915delinsGA	ENSP00000377724.1:n.-916_-915delinsGA
ENST00000579695.5:c.-18+1222_-18+1223delinsGA	ENSP00000464693.1:n.-18+1222_-18+1223delinsGA
ENST00000582052.1:n.108_109delinsGA
ENST00000584000.1:c.-23+805_-23+806delinsGA	ENSP00000464298.1:n.-23+805_-23+806delinsGA
NM_139280.2:c.-23+1222_-23+1223delinsGA	NP_644809.1:n.-23+1222_-23+1223delinsGA
XM_005257825.3:c.-23+555_-23+556delinsGA	XP_005257882.2:n.-23+555_-23+556delinsGA
XM_005257827.2:c.-18+1222_-18+1223delinsGA	XP_005257884.1:n.-18+1222_-18+1223delinsGA
NM_001320801.1:c.-916_-915delinsGA	NP_001307730.1:n.-916_-915delinsGA
NM_001320802.1:c.-18+1222_-18+1223delinsGA	NP_001307731.1:n.-18+1222_-18+1223delinsGA
NM_001320803.1:c.-23+555_-23+556delinsGA	NP_001307732.1:n.-23+555_-23+556delinsGA
NM_139280.3:c.-23+1222_-23+1223delinsGA	NP_644809.1:n.-23+1222_-23+1223delinsGA
NM_139280.4:c.-23+1222_-23+1223delinsGA MANE Select	NP_644809.1:n.-23+1222_-23+1223delinsGA
NM_001320802.2:c.-18+1222_-18+1223delinsGA	NP_001307731.1:n.-18+1222_-18+1223delinsGA
NM_001320801.2:c.-916_-915delinsGA	NP_001307730.1:n.-916_-915delinsGA