Canonical Allele Identifier: CA222931329

Gene: FADS2

Linked Data

• dbSNP Id: rs199985711
• gnomAD v2: 11-61602459-CCA-C
• gnomAD v3: 11-61834987-CCA-C
• gnomAD v4: 11-61834987-CCA-C
• COSMIC: COSN20120792
• MyVariant Identifiers: chr11:g.61602460_61602461del (hg19) ; chr11:g.61834988_61834989del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61834989_61834990del , CM000673.2:g.61834989_61834990del	GRCh38
NC_000011.9:g.61602461_61602462del , CM000673.1:g.61602461_61602462del	GRCh37
NC_000011.8:g.61359037_61359038del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278840.9:c.208-2789_208-2788del MANE Select	ENSP00000278840.4:n.208-2789_208-2788del
ENST00000257261.10:c.142-2789_142-2788del	ENSP00000257261.6:n.142-2789_142-2788del
ENST00000278840.8:c.208-2789_208-2788del	ENSP00000278840.4:n.208-2789_208-2788del
ENST00000517312.5:c.-159-2789_-159-2788del	ENSP00000430225.1:n.-159-2789_-159-2788del
ENST00000518606.5:c.-159-2789_-159-2788del	ENSP00000430054.1:n.-159-2789_-159-2788del
ENST00000521849.5:c.208-2789_208-2788del	ENSP00000431091.1:n.208-2789_208-2788del
ENST00000522056.5:c.115-2789_115-2788del	ENSP00000429500.1:n.115-2789_115-2788del
NM_001281501.1:c.142-2789_142-2788del	NP_001268430.1:n.142-2789_142-2788del
NM_001281502.1:c.115-2789_115-2788del	NP_001268431.1:n.115-2789_115-2788del
NM_004265.3:c.208-2789_208-2788del	NP_004256.1:n.208-2789_208-2788del
XM_011545395.1:c.208-2789_208-2788del	XP_011543697.1:n.208-2789_208-2788del
NM_004265.4:c.208-2789_208-2788del MANE Select	NP_004256.1:n.208-2789_208-2788del