Canonical Allele Identifier: CA625945711

Gene: ORMDL3

Linked Data

• dbSNP Id: rs1416040189
• gnomAD v2: 17-38082619-ACAAAAAGACTGG-A
• MyVariant Identifiers: chr17:g.38082620_38082631del (hg19) ; chr17:g.39926367_39926378del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39926370_39926381del , CM000679.2:g.39926370_39926381del	GRCh38
NC_000017.10:g.38082623_38082634del , CM000679.1:g.38082623_38082634del	GRCh37
NC_000017.9:g.35336149_35336160del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304046.7:c.-23+1106_-23+1117del MANE Select	ENSP00000304858.2:n.-23+1106_-23+1117del
ENST00000304046.6:c.-23+1106_-23+1117del	ENSP00000304858.2:n.-23+1106_-23+1117del
ENST00000394169.5:c.-1032_-1021del	ENSP00000377724.1:n.-1032_-1021del
ENST00000579695.5:c.-18+1106_-18+1117del	ENSP00000464693.1:n.-18+1106_-18+1117del
ENST00000582052.1:n.31-39_31-28del
ENST00000584000.1:c.-23+689_-23+700del	ENSP00000464298.1:n.-23+689_-23+700del
NM_139280.2:c.-23+1106_-23+1117del	NP_644809.1:n.-23+1106_-23+1117del
XM_005257825.3:c.-23+439_-23+450del	XP_005257882.2:n.-23+439_-23+450del
XM_005257827.2:c.-18+1106_-18+1117del	XP_005257884.1:n.-18+1106_-18+1117del
NM_001320801.1:c.-1032_-1021del	NP_001307730.1:n.-1032_-1021del
NM_001320802.1:c.-18+1106_-18+1117del	NP_001307731.1:n.-18+1106_-18+1117del
NM_001320803.1:c.-23+439_-23+450del	NP_001307732.1:n.-23+439_-23+450del
NM_139280.3:c.-23+1106_-23+1117del	NP_644809.1:n.-23+1106_-23+1117del
NM_139280.4:c.-23+1106_-23+1117del MANE Select	NP_644809.1:n.-23+1106_-23+1117del
NM_001320802.2:c.-18+1106_-18+1117del	NP_001307731.1:n.-18+1106_-18+1117del
NM_001320801.2:c.-1032_-1021del	NP_001307730.1:n.-1032_-1021del