Canonical Allele Identifier: CA1977477298
Gene: FADS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61835044_61835064delinsCTTCTCCCTGCCTCCCCAGGG , CM000673.2:g.61835044_61835064delinsCTTCTCCCTGCCTCCCCAGGG GRCh38
NC_000011.9:g.61602516_61602536delinsCTTCTCCCTGCCTCCCCAGGG , CM000673.1:g.61602516_61602536delinsCTTCTCCCTGCCTCCCCAGGG GRCh37
NC_000011.8:g.61359092_61359112delinsCTTCTCCCTGCCTCCCCAGGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.208-2734_208-2714delinsCTTCTCCCTGCCTCCCCAGGG MANE Select ENSP00000278840.4:n.208-2734_208-2714delinsCTTCTCCCTGCCTCCCCA...
ENST00000257261.10:c.142-2734_142-2714delinsCTTCTCCCTGCCTCCCCAGGG ENSP00000257261.6:n.142-2734_142-2714delinsCTTCTCCCTGCCTCCCCA...
ENST00000278840.8:c.208-2734_208-2714delinsCTTCTCCCTGCCTCCCCAGGG ENSP00000278840.4:n.208-2734_208-2714delinsCTTCTCCCTGCCTCCCCA...
ENST00000517312.5:c.-159-2734_-159-2714delinsCTTCTCCCTGCCTCCCCAGGG ENSP00000430225.1:n.-159-2734_-159-2714delinsCTTCTCCCTGCCTCCC...
ENST00000518606.5:c.-159-2734_-159-2714delinsCTTCTCCCTGCCTCCCCAGGG ENSP00000430054.1:n.-159-2734_-159-2714delinsCTTCTCCCTGCCTCCC...
ENST00000521849.5:c.208-2734_208-2714delinsCTTCTCCCTGCCTCCCCAGGG ENSP00000431091.1:n.208-2734_208-2714delinsCTTCTCCCTGCCTCCCCA...
ENST00000522056.5:c.115-2734_115-2714delinsCTTCTCCCTGCCTCCCCAGGG ENSP00000429500.1:n.115-2734_115-2714delinsCTTCTCCCTGCCTCCCCA...
NM_001281501.1:c.142-2734_142-2714delinsCTTCTCCCTGCCTCCCCAGGG NP_001268430.1:n.142-2734_142-2714delinsCTTCTCCCTGCCTCCCCAGGG...
NM_001281502.1:c.115-2734_115-2714delinsCTTCTCCCTGCCTCCCCAGGG NP_001268431.1:n.115-2734_115-2714delinsCTTCTCCCTGCCTCCCCAGGG...
NM_004265.3:c.208-2734_208-2714delinsCTTCTCCCTGCCTCCCCAGGG NP_004256.1:n.208-2734_208-2714delinsCTTCTCCCTGCCTCCCCAGGG
XM_011545395.1:c.208-2734_208-2714delinsCTTCTCCCTGCCTCCCCAGGG XP_011543697.1:n.208-2734_208-2714delinsCTTCTCCCTGCCTCCCCAGGG...
NM_004265.4:c.208-2734_208-2714delinsCTTCTCCCTGCCTCCCCAGGG MANE Select NP_004256.1:n.208-2734_208-2714delinsCTTCTCCCTGCCTCCCCAGGG