Canonical Allele Identifier: CA1977474620

Gene: FADS2 FADS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61828978_61828979delinsGC , CM000673.2:g.61828978_61828979delinsGC	GRCh38
NC_000011.9:g.61596450_61596451delinsGC , CM000673.1:g.61596450_61596451delinsGC	GRCh37
NC_000011.8:g.61353026_61353027delinsGC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278840.9:c.207+381_207+382delinsGC (FADS2) MANE Select	ENSP00000278840.4:n.207+381_207+382delinsGC
ENST00000257261.10:c.142-8800_142-8799delinsGC (FADS2)	ENSP00000257261.6:n.142-8800_142-8799delinsGC
ENST00000278840.8:c.207+381_207+382delinsGC (FADS2)	ENSP00000278840.4:n.207+381_207+382delinsGC
ENST00000421879.5:c.-49+222_-49+223delinsGC (FADS1)	ENSP00000416043.1:n.-49+222_-49+223delinsGC
ENST00000448607.1:c.-308+222_-308+223delinsGC (FADS1)	ENSP00000391229.1:n.-308+222_-308+223delinsGC
ENST00000517312.5:c.-160+381_-160+382delinsGC (FADS2)	ENSP00000430225.1:n.-160+381_-160+382delinsGC
ENST00000518606.5:c.-160+1547_-160+1548delinsGC (FADS2)	ENSP00000430054.1:n.-160+1547_-160+1548delinsGC
ENST00000521849.5:c.207+381_207+382delinsGC (FADS2)	ENSP00000431091.1:n.207+381_207+382delinsGC
ENST00000522056.5:c.115-8800_115-8799delinsGC (FADS2)	ENSP00000429500.1:n.115-8800_115-8799delinsGC
NM_001281501.1:c.142-8800_142-8799delinsGC (FADS2)	NP_001268430.1:n.142-8800_142-8799delinsGC
NM_001281502.1:c.115-8800_115-8799delinsGC (FADS2)	NP_001268431.1:n.115-8800_115-8799delinsGC
NM_004265.3:c.207+381_207+382delinsGC (FADS2)	NP_004256.1:n.207+381_207+382delinsGC
XM_011545395.1:c.207+381_207+382delinsGC (FADS2)	XP_011543697.1:n.207+381_207+382delinsGC
NM_004265.4:c.207+381_207+382delinsGC (FADS2) MANE Select	NP_004256.1:n.207+381_207+382delinsGC