Canonical Allele Identifier: CA1977474660

Gene: FADS2 FADS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61829065_61829066delinsTG , CM000673.2:g.61829065_61829066delinsTG	GRCh38
NC_000011.9:g.61596537_61596538delinsTG , CM000673.1:g.61596537_61596538delinsTG	GRCh37
NC_000011.8:g.61353113_61353114delinsTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.207+468_207+469delinsTG (FADS2) MANE Select	ENSP00000278840.4:n.207+468_207+469delinsTG
ENST00000257261.10:c.142-8713_142-8712delinsTG (FADS2)	ENSP00000257261.6:n.142-8713_142-8712delinsTG
ENST00000278840.8:c.207+468_207+469delinsTG (FADS2)	ENSP00000278840.4:n.207+468_207+469delinsTG
ENST00000421879.5:c.-49+135_-49+136delinsCA (FADS1)	ENSP00000416043.1:n.-49+135_-49+136delinsCA
ENST00000448607.1:c.-308+135_-308+136delinsCA (FADS1)	ENSP00000391229.1:n.-308+135_-308+136delinsCA
ENST00000517312.5:c.-160+468_-160+469delinsTG (FADS2)	ENSP00000430225.1:n.-160+468_-160+469delinsTG
ENST00000518606.5:c.-160+1634_-160+1635delinsTG (FADS2)	ENSP00000430054.1:n.-160+1634_-160+1635delinsTG
ENST00000521849.5:c.207+468_207+469delinsTG (FADS2)	ENSP00000431091.1:n.207+468_207+469delinsTG
ENST00000522056.5:c.115-8713_115-8712delinsTG (FADS2)	ENSP00000429500.1:n.115-8713_115-8712delinsTG
NM_001281501.1:c.142-8713_142-8712delinsTG (FADS2)	NP_001268430.1:n.142-8713_142-8712delinsTG
NM_001281502.1:c.115-8713_115-8712delinsTG (FADS2)	NP_001268431.1:n.115-8713_115-8712delinsTG
NM_004265.3:c.207+468_207+469delinsTG (FADS2)	NP_004256.1:n.207+468_207+469delinsTG
XM_011545395.1:c.207+468_207+469delinsTG (FADS2)	XP_011543697.1:n.207+468_207+469delinsTG
NM_004265.4:c.207+468_207+469delinsTG (FADS2) MANE Select	NP_004256.1:n.207+468_207+469delinsTG