Canonical Allele Identifier: CA2792334871
Gene: FADS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61835056_61835072del , CM000673.2:g.61835056_61835072del GRCh38
NC_000011.9:g.61602528_61602544del , CM000673.1:g.61602528_61602544del GRCh37
NC_000011.8:g.61359104_61359120del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.208-2722_208-2706del MANE Select ENSP00000278840.4:n.208-2722_208-2706del
ENST00000257261.10:c.142-2722_142-2706del ENSP00000257261.6:n.142-2722_142-2706del
ENST00000278840.8:c.208-2722_208-2706del ENSP00000278840.4:n.208-2722_208-2706del
ENST00000517312.5:c.-159-2722_-159-2706del ENSP00000430225.1:n.-159-2722_-159-2706del
ENST00000518606.5:c.-159-2722_-159-2706del ENSP00000430054.1:n.-159-2722_-159-2706del
ENST00000521849.5:c.208-2722_208-2706del ENSP00000431091.1:n.208-2722_208-2706del
ENST00000522056.5:c.115-2722_115-2706del ENSP00000429500.1:n.115-2722_115-2706del
NM_001281501.1:c.142-2722_142-2706del NP_001268430.1:n.142-2722_142-2706del
NM_001281502.1:c.115-2722_115-2706del NP_001268431.1:n.115-2722_115-2706del
NM_004265.3:c.208-2722_208-2706del NP_004256.1:n.208-2722_208-2706del
XM_011545395.1:c.208-2722_208-2706del XP_011543697.1:n.208-2722_208-2706del
NM_004265.4:c.208-2722_208-2706del MANE Select NP_004256.1:n.208-2722_208-2706del