Allele Registry

Canonical Allele Identifier: CA222927433

Gene: FADS2 HGNC NCBI
FADS1 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr11:g.61827449del

GRCh37 chr11:g.61594921del

Linked Data - Sequence & Population

gnomAD v2:

11:61594920 CT / C

gnomAD v3:

11:61827448 CT / C

gnomAD v4:

chr11-61827448-CT-C

Joint Max Group AF 0.53612688 (EAS)

Genomes Max Group AF 0.53640347 (EAS)

Exomes Max Group AF 0.16276773 (NFE)

Linked Data - NCBI & NCI

dbSNP:

3834458

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61827449del , CM000673.2:g.61827449del	GRCh38
NC_000011.9:g.61594921del , CM000673.1:g.61594921del	GRCh37
NC_000011.8:g.61351497del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257261.10:c.142-10329del (FADS2)	ENSP00000257261.6:n.142-10329del
ENST00000421879.5:c.-49+1752del (FADS1)	ENSP00000416043.1:n.-49+1752del
ENST00000448607.1:c.-49+1001del (FADS1)	ENSP00000391229.1:n.-49+1001del
ENST00000518606.5:c.-160+18del (FADS2)	ENSP00000430054.1:n.-160+18del
ENST00000522056.5:c.115-10329del (FADS2)	ENSP00000429500.1:n.115-10329del
NM_001281501.1:c.142-10329del (FADS2)	NP_001268430.1:n.142-10329del
NM_001281502.1:c.115-10329del (FADS2)	NP_001268431.1:n.115-10329del

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