Canonical Allele Identifier: CA1977474890
Gene: FADS2 HGNC NCBI

Linked Data

dbSNP Id: rs2067110743
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61829571_61829572del , CM000673.2:g.61829571_61829572del GRCh38
NC_000011.9:g.61597043_61597044del , CM000673.1:g.61597043_61597044del GRCh37
NC_000011.8:g.61353619_61353620del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000278840.9:c.207+974_207+975del MANE Select ENSP00000278840.4:n.207+974_207+975del
ENST00000257261.10:c.142-8207_142-8206del ENSP00000257261.6:n.142-8207_142-8206del
ENST00000278840.8:c.207+974_207+975del ENSP00000278840.4:n.207+974_207+975del
ENST00000517312.5:c.-160+974_-160+975del ENSP00000430225.1:n.-160+974_-160+975del
ENST00000518606.5:c.-160+2140_-160+2141del ENSP00000430054.1:n.-160+2140_-160+2141de...
ENST00000521849.5:c.207+974_207+975del ENSP00000431091.1:n.207+974_207+975del
ENST00000522056.5:c.115-8207_115-8206del ENSP00000429500.1:n.115-8207_115-8206del
NM_001281501.1:c.142-8207_142-8206del NP_001268430.1:n.142-8207_142-8206del
NM_001281502.1:c.115-8207_115-8206del NP_001268431.1:n.115-8207_115-8206del
NM_004265.3:c.207+974_207+975del NP_004256.1:n.207+974_207+975del
XM_011545395.1:c.207+974_207+975del XP_011543697.1:n.207+974_207+975del
NM_004265.4:c.207+974_207+975del MANE Select NP_004256.1:n.207+974_207+975del
Search 100 bp 5'
Search 100 bp 3'