Canonical Allele Identifier: CA1977478819

Gene: FADS2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61838307_61838308delinsCT , CM000673.2:g.61838307_61838308delinsCT	GRCh38
NC_000011.9:g.61605779_61605780delinsCT , CM000673.1:g.61605779_61605780delinsCT	GRCh37
NC_000011.8:g.61362355_61362356delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.318+419_318+420delinsCT MANE Select	ENSP00000278840.4:n.318+419_318+420delinsCT
ENST00000257261.10:c.252+419_252+420delinsCT	ENSP00000257261.6:n.252+419_252+420delinsCT
ENST00000278840.8:c.318+419_318+420delinsCT	ENSP00000278840.4:n.318+419_318+420delinsCT
ENST00000517312.5:c.-49+419_-49+420delinsCT	ENSP00000430225.1:n.-49+419_-49+420delinsCT
ENST00000518606.5:c.-49+419_-49+420delinsCT	ENSP00000430054.1:n.-49+419_-49+420delinsCT
ENST00000521849.5:c.318+419_318+420delinsCT	ENSP00000431091.1:n.318+419_318+420delinsCT
ENST00000522056.5:c.225+419_225+420delinsCT	ENSP00000429500.1:n.225+419_225+420delinsCT
NM_001281501.1:c.252+419_252+420delinsCT	NP_001268430.1:n.252+419_252+420delinsCT
NM_001281502.1:c.225+419_225+420delinsCT	NP_001268431.1:n.225+419_225+420delinsCT
NM_004265.3:c.318+419_318+420delinsCT	NP_004256.1:n.318+419_318+420delinsCT
XM_011545395.1:c.318+419_318+420delinsCT	XP_011543697.1:n.318+419_318+420delinsCT
NM_004265.4:c.318+419_318+420delinsCT MANE Select	NP_004256.1:n.318+419_318+420delinsCT