Canonical Allele Identifier: CA222932947

Gene: FADS2

Linked Data

• dbSNP Id: rs200678130
• gnomAD v2: 11-61605773-GC-G
• gnomAD v3: 11-61838301-GC-G
• gnomAD v4: 11-61838301-GC-G
• MyVariant Identifiers: chr11:g.61605774del (hg19) ; chr11:g.61838302del (hg38)

Genomic Alleles

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

Transcript Alleles

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