Canonical Allele Identifier: CA679001830
Gene: FADS1 HGNC NCBI
FADS2 HGNC NCBI

Linked Data

dbSNP Id: rs1361725132
MyVariant Identifiers: chr11:g.61579760_61579761del (hg19) chr11:g.61812288_61812289del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61812288_61812289del , CM000673.2:g.61812288_61812289del GRCh38
NC_000011.9:g.61579760_61579761del , CM000673.1:g.61579760_61579761del GRCh37
NC_000011.8:g.61336336_61336337del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000350997.12:c.684+182_684+183del (FADS1) MANE Select ENSP00000322229.9:n.684+182_684+183del
ENST00000350997.11:c.684+182_684+183del (FADS1) ENSP00000322229.9:n.684+182_684+183del
ENST00000421879.5:c.261+182_261+183del (FADS1) ENSP00000416043.1:n.261+182_261+183del
ENST00000424501.5:c.526+182_526+183del (FADS1)
ENST00000433932.5:c.261+182_261+183del (FADS1) ENSP00000405087.1:n.261+182_261+183del
ENST00000466716.5:c.261+182_261+183del (FADS1) ENSP00000446270.1:n.261+182_261+183del
ENST00000491310.5:c.422+182_422+183del (FADS1)
ENST00000496123.6:n.7+188_7+189del (FADS1)
ENST00000540767.5:c.261+182_261+183del (FADS1) ENSP00000441871.1:n.261+182_261+183del
ENST00000542506.5:c.261+182_261+183del (FADS1) ENSP00000441403.1:n.261+182_261+183del
ENST00000544309.5:c.261+182_261+183del (FADS1) ENSP00000439790.1:n.261+182_261+183del
ENST00000544696.5:c.261+182_261+183del (FADS1) ENSP00000443037.1:n.261+182_261+183del
ENST00000545245.5:c.261+182_261+183del (FADS1) ENSP00000442170.1:n.261+182_261+183del
ENST00000545405.5:c.261+182_261+183del (FADS1) ENSP00000440652.1:n.261+182_261+183del
ENST00000574708.5:c.-54-13744_-54-13743del (FADS2) ENSP00000458917.1:n.-54-13744_-54-13743del
NM_013402.4:c.684+182_684+183del (FADS1) NP_037534.3:n.684+182_684+183del
XM_011545022.1:c.471+182_471+183del (FADS1) XP_011543324.1:n.471+182_471+183del
NM_013402.6:c.684+182_684+183del (FADS1) NP_037534.5:n.684+182_684+183del
XM_011545022.2:c.471+182_471+183del (FADS1) XP_011543324.1:n.471+182_471+183del
NM_013402.7:c.684+182_684+183del (FADS1) MANE Select NP_037534.5:n.684+182_684+183del
Search 100 bp 5'
Search 100 bp 3'