Canonical Allele Identifier: CA2792334609

Gene: FADS2 FADS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61829238_61829259del , CM000673.2:g.61829238_61829259del	GRCh38
NC_000011.9:g.61596710_61596731del , CM000673.1:g.61596710_61596731del	GRCh37
NC_000011.8:g.61353286_61353307del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.207+641_207+662del (FADS2) MANE Select	ENSP00000278840.4:n.207+641_207+662del
ENST00000257261.10:c.142-8540_142-8519del (FADS2)	ENSP00000257261.6:n.142-8540_142-8519del
ENST00000278840.8:c.207+641_207+662del (FADS2)	ENSP00000278840.4:n.207+641_207+662del
ENST00000421879.5:c.-107_-86del (FADS1)	ENSP00000416043.1:n.-107_-86del
ENST00000448607.1:c.-366_-345del (FADS1)	ENSP00000391229.1:n.-366_-345del
ENST00000517312.5:c.-160+641_-160+662del (FADS2)	ENSP00000430225.1:n.-160+641_-160+662del
ENST00000518606.5:c.-160+1807_-160+1828del (FADS2)	ENSP00000430054.1:n.-160+1807_-160+1828del
ENST00000521849.5:c.207+641_207+662del (FADS2)	ENSP00000431091.1:n.207+641_207+662del
ENST00000522056.5:c.115-8540_115-8519del (FADS2)	ENSP00000429500.1:n.115-8540_115-8519del
NM_001281501.1:c.142-8540_142-8519del (FADS2)	NP_001268430.1:n.142-8540_142-8519del
NM_001281502.1:c.115-8540_115-8519del (FADS2)	NP_001268431.1:n.115-8540_115-8519del
NM_004265.3:c.207+641_207+662del (FADS2)	NP_004256.1:n.207+641_207+662del
XM_011545395.1:c.207+641_207+662del (FADS2)	XP_011543697.1:n.207+641_207+662del
NM_004265.4:c.207+641_207+662del (FADS2) MANE Select	NP_004256.1:n.207+641_207+662del