Canonical Allele Identifier: CA599519713

Gene: FADS2

Linked Data

• dbSNP Id: rs1188774107
• gnomAD v2: 11-61596824-AGGTTACTCTCG-A
• gnomAD v3: 11-61829352-AGGTTACTCTCG-A
• gnomAD v4: 11-61829352-AGGTTACTCTCG-A
• MyVariant Identifiers: chr11:g.61596825_61596835del (hg19) ; chr11:g.61829353_61829363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61829355_61829365del , CM000673.2:g.61829355_61829365del	GRCh38
NC_000011.9:g.61596827_61596837del , CM000673.1:g.61596827_61596837del	GRCh37
NC_000011.8:g.61353403_61353413del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.207+758_207+768del MANE Select	ENSP00000278840.4:n.207+758_207+768del
ENST00000257261.10:c.142-8423_142-8413del	ENSP00000257261.6:n.142-8423_142-8413del
ENST00000278840.8:c.207+758_207+768del	ENSP00000278840.4:n.207+758_207+768del
ENST00000517312.5:c.-160+758_-160+768del	ENSP00000430225.1:n.-160+758_-160+768del
ENST00000518606.5:c.-160+1924_-160+1934del	ENSP00000430054.1:n.-160+1924_-160+1934del
ENST00000521849.5:c.207+758_207+768del	ENSP00000431091.1:n.207+758_207+768del
ENST00000522056.5:c.115-8423_115-8413del	ENSP00000429500.1:n.115-8423_115-8413del
NM_001281501.1:c.142-8423_142-8413del	NP_001268430.1:n.142-8423_142-8413del
NM_001281502.1:c.115-8423_115-8413del	NP_001268431.1:n.115-8423_115-8413del
NM_004265.3:c.207+758_207+768del	NP_004256.1:n.207+758_207+768del
XM_011545395.1:c.207+758_207+768del	XP_011543697.1:n.207+758_207+768del
NM_004265.4:c.207+758_207+768del MANE Select	NP_004256.1:n.207+758_207+768del