Canonical Allele Identifier: CA2613918723
Gene: FADS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61865769_61865773del , CM000673.2:g.61865769_61865773del GRCh38
NC_000011.9:g.61633241_61633245del , CM000673.1:g.61633241_61633245del GRCh37
NC_000011.8:g.61389817_61389821del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.*80_*84del MANE Select ENSP00000278840.4:n.*80_*84del
ENST00000257261.10:c.*80_*84del ENSP00000257261.6:n.*80_*84del
ENST00000278840.8:c.*80_*84del ENSP00000278840.4:n.*80_*84del
ENST00000522056.5:c.*80_*84del ENSP00000429500.1:n.*80_*84del
ENST00000523235.5:n.3495_3499del
NM_001281501.1:c.*80_*84del NP_001268430.1:n.*80_*84del
NM_001281502.1:c.*80_*84del NP_001268431.1:n.*80_*84del
NM_004265.3:c.*80_*84del NP_004256.1:n.*80_*84del
NM_004265.4:c.*80_*84del MANE Select NP_004256.1:n.*80_*84del