Canonical Allele Identifier: CA679011909

Linked Data

dbSNP Id: rs1287095592

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61829071_61829072dup , CM000673.2:g.61829071_61829072dup GRCh38
NC_000011.9:g.61596543_61596544dup , CM000673.1:g.61596543_61596544dup GRCh37
NC_000011.8:g.61353119_61353120dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.207+474_207+475dup (FADS2) MANE Select ENSP00000278840.4:n.207+474_207+475dup
ENST00000257261.10:c.142-8707_142-8706dup (FADS2) ENSP00000257261.6:n.142-8707_142-8706dup
ENST00000278840.8:c.207+474_207+475dup (FADS2) ENSP00000278840.4:n.207+474_207+475dup
ENST00000421879.5:c.-49+131_-49+132dup (FADS1) ENSP00000416043.1:n.-49+131_-49+132dup
ENST00000448607.1:c.-308+131_-308+132dup (FADS1) ENSP00000391229.1:n.-308+131_-308+132dup
ENST00000517312.5:c.-160+474_-160+475dup (FADS2) ENSP00000430225.1:n.-160+474_-160+475dup
ENST00000518606.5:c.-160+1640_-160+1641dup (FADS2) ENSP00000430054.1:n.-160+1640_-160+1641dup
ENST00000521849.5:c.207+474_207+475dup (FADS2) ENSP00000431091.1:n.207+474_207+475dup
ENST00000522056.5:c.115-8707_115-8706dup (FADS2) ENSP00000429500.1:n.115-8707_115-8706dup
NM_001281501.1:c.142-8707_142-8706dup (FADS2) NP_001268430.1:n.142-8707_142-8706dup
NM_001281502.1:c.115-8707_115-8706dup (FADS2) NP_001268431.1:n.115-8707_115-8706dup
NM_004265.3:c.207+474_207+475dup (FADS2) NP_004256.1:n.207+474_207+475dup
XM_011545395.1:c.207+474_207+475dup (FADS2) XP_011543697.1:n.207+474_207+475dup
NM_004265.4:c.207+474_207+475dup (FADS2) MANE Select NP_004256.1:n.207+474_207+475dup