Canonical Allele Identifier: CA2259314307

Gene: ORMDL3

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926558_39926559delinsTG , CM000679.2:g.39926558_39926559delinsTG	GRCh38
NC_000017.10:g.38082811_38082812delinsTG , CM000679.1:g.38082811_38082812delinsTG	GRCh37
NC_000017.9:g.35336337_35336338delinsTG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000304046.7:c.-23+925_-23+926delinsCA MANE Select	ENSP00000304858.2:n.-23+925_-23+926delins...
ENST00000304046.6:c.-23+925_-23+926delinsCA	ENSP00000304858.2:n.-23+925_-23+926delins...
ENST00000394169.5:c.-1213_-1212delinsCA	ENSP00000377724.1:n.-1213_-1212delinsCA
ENST00000579695.5:c.-18+925_-18+926delinsCA	ENSP00000464693.1:n.-18+925_-18+926delins...
ENST00000582052.1:n.31-220_31-219delinsCA
ENST00000584000.1:c.-23+508_-23+509delinsCA	ENSP00000464298.1:n.-23+508_-23+509delins...
NM_139280.2:c.-23+925_-23+926delinsCA	NP_644809.1:n.-23+925_-23+926delinsCA
XM_005257825.3:c.-23+258_-23+259delinsCA	XP_005257882.2:n.-23+258_-23+259delinsCA
XM_005257827.2:c.-18+925_-18+926delinsCA	XP_005257884.1:n.-18+925_-18+926delinsCA
NM_001320801.1:c.-1213_-1212delinsCA	NP_001307730.1:n.-1213_-1212delinsCA
NM_001320802.1:c.-18+925_-18+926delinsCA	NP_001307731.1:n.-18+925_-18+926delinsCA
NM_001320803.1:c.-23+258_-23+259delinsCA	NP_001307732.1:n.-23+258_-23+259delinsCA
NM_139280.3:c.-23+925_-23+926delinsCA	NP_644809.1:n.-23+925_-23+926delinsCA
NM_139280.4:c.-23+925_-23+926delinsCA MANE Select	NP_644809.1:n.-23+925_-23+926delinsCA
NM_001320802.2:c.-18+925_-18+926delinsCA	NP_001307731.1:n.-18+925_-18+926delinsCA
NM_001320801.2:c.-1213_-1212delinsCA	NP_001307730.1:n.-1213_-1212delinsCA