Canonical Allele Identifier: CA2613887526

Gene: FADS1 FADS2

Linked Data

• gnomAD v4: 11-61812120-CATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61812125_61812127del , CM000673.2:g.61812125_61812127del	GRCh38
NC_000011.9:g.61579597_61579599del , CM000673.1:g.61579597_61579599del	GRCh37
NC_000011.8:g.61336173_61336175del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350997.12:c.684+348_684+350del (FADS1) MANE Select	ENSP00000322229.9:n.684+348_684+350del
ENST00000350997.11:c.684+348_684+350del (FADS1)	ENSP00000322229.9:n.684+348_684+350del
ENST00000421879.5:c.261+348_261+350del (FADS1)	ENSP00000416043.1:n.261+348_261+350del
ENST00000424501.5:c.527-145_527-143del (FADS1)
ENST00000433932.5:c.261+348_261+350del (FADS1)	ENSP00000405087.1:n.261+348_261+350del
ENST00000466716.5:c.261+348_261+350del (FADS1)	ENSP00000446270.1:n.261+348_261+350del
ENST00000491310.5:c.422+348_422+350del (FADS1)
ENST00000496123.6:n.7+354_7+356del (FADS1)
ENST00000540767.5:c.261+348_261+350del (FADS1)	ENSP00000441871.1:n.261+348_261+350del
ENST00000542506.5:c.261+348_261+350del (FADS1)	ENSP00000441403.1:n.261+348_261+350del
ENST00000544309.5:c.261+348_261+350del (FADS1)	ENSP00000439790.1:n.261+348_261+350del
ENST00000544696.5:c.261+348_261+350del (FADS1)	ENSP00000443037.1:n.261+348_261+350del
ENST00000545245.5:c.261+348_261+350del (FADS1)	ENSP00000442170.1:n.261+348_261+350del
ENST00000545405.5:c.261+348_261+350del (FADS1)	ENSP00000440652.1:n.261+348_261+350del
ENST00000574708.5:c.-54-13907_-54-13905del (FADS2)	ENSP00000458917.1:n.-54-13907_-54-13905del
NM_013402.4:c.684+348_684+350del (FADS1)	NP_037534.3:n.684+348_684+350del
XM_011545022.1:c.471+348_471+350del (FADS1)	XP_011543324.1:n.471+348_471+350del
NM_013402.6:c.684+348_684+350del (FADS1)	NP_037534.5:n.684+348_684+350del
XM_011545022.2:c.471+348_471+350del (FADS1)	XP_011543324.1:n.471+348_471+350del
NM_013402.7:c.684+348_684+350del (FADS1) MANE Select	NP_037534.5:n.684+348_684+350del