Canonical Allele Identifier: CA599520616

Gene: FADS2

Linked Data

• dbSNP Id: rs1565329390
• gnomAD v2: 11-61605383-G-GTGGGGGTGGAGACGAGGC
• gnomAD v4: 11-61837911-G-GTGGGGGTGGAGACGAGGC
• MyVariant Identifiers: chr11:g.61605383_61605384insTGGGGGTGGAGACGAGGC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61837921_61837938dup , CM000673.2:g.61837921_61837938dup	GRCh38
NC_000011.9:g.61605393_61605410dup , CM000673.1:g.61605393_61605410dup	GRCh37
NC_000011.8:g.61361969_61361986dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278840.9:c.318+33_318+50dup MANE Select	ENSP00000278840.4:n.318+33_318+50dup
ENST00000257261.10:c.252+33_252+50dup	ENSP00000257261.6:n.252+33_252+50dup
ENST00000278840.8:c.318+33_318+50dup	ENSP00000278840.4:n.318+33_318+50dup
ENST00000517312.5:c.-49+33_-49+50dup	ENSP00000430225.1:n.-49+33_-49+50dup
ENST00000518606.5:c.-49+33_-49+50dup	ENSP00000430054.1:n.-49+33_-49+50dup
ENST00000521849.5:c.318+33_318+50dup	ENSP00000431091.1:n.318+33_318+50dup
ENST00000522056.5:c.225+33_225+50dup	ENSP00000429500.1:n.225+33_225+50dup
NM_001281501.1:c.252+33_252+50dup	NP_001268430.1:n.252+33_252+50dup
NM_001281502.1:c.225+33_225+50dup	NP_001268431.1:n.225+33_225+50dup
NM_004265.3:c.318+33_318+50dup	NP_004256.1:n.318+33_318+50dup
XM_011545395.1:c.318+33_318+50dup	XP_011543697.1:n.318+33_318+50dup
NM_004265.4:c.318+33_318+50dup MANE Select	NP_004256.1:n.318+33_318+50dup