Canonical Allele Identifier: CA222928449

Gene: FADS2

Linked Data

• dbSNP Id: rs376608018
• gnomAD v2: 11-61596857-CTCTT-C
• gnomAD v3: 11-61829385-CTCTT-C
• gnomAD v4: 11-61829385-CTCTT-C
• MyVariant Identifiers: chr11:g.61596858_61596861del (hg19) ; chr11:g.61829386_61829389del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61829387_61829390del , CM000673.2:g.61829387_61829390del	GRCh38
NC_000011.9:g.61596859_61596862del , CM000673.1:g.61596859_61596862del	GRCh37
NC_000011.8:g.61353435_61353438del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.207+790_207+793del MANE Select	ENSP00000278840.4:n.207+790_207+793del
ENST00000257261.10:c.142-8391_142-8388del	ENSP00000257261.6:n.142-8391_142-8388del
ENST00000278840.8:c.207+790_207+793del	ENSP00000278840.4:n.207+790_207+793del
ENST00000517312.5:c.-160+790_-160+793del	ENSP00000430225.1:n.-160+790_-160+793del
ENST00000518606.5:c.-160+1956_-160+1959del	ENSP00000430054.1:n.-160+1956_-160+1959del
ENST00000521849.5:c.207+790_207+793del	ENSP00000431091.1:n.207+790_207+793del
ENST00000522056.5:c.115-8391_115-8388del	ENSP00000429500.1:n.115-8391_115-8388del
NM_001281501.1:c.142-8391_142-8388del	NP_001268430.1:n.142-8391_142-8388del
NM_001281502.1:c.115-8391_115-8388del	NP_001268431.1:n.115-8391_115-8388del
NM_004265.3:c.207+790_207+793del	NP_004256.1:n.207+790_207+793del
XM_011545395.1:c.207+790_207+793del	XP_011543697.1:n.207+790_207+793del
NM_004265.4:c.207+790_207+793del MANE Select	NP_004256.1:n.207+790_207+793del