Canonical Allele Identifier: CA1977477283
Gene: FADS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61835030_61835038delinsTGCCTCCCC , CM000673.2:g.61835030_61835038delinsTGCCTCCCC GRCh38
NC_000011.9:g.61602502_61602510delinsTGCCTCCCC , CM000673.1:g.61602502_61602510delinsTGCCTCCCC GRCh37
NC_000011.8:g.61359078_61359086delinsTGCCTCCCC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000278840.9:c.208-2748_208-2740delinsTGCCTCCCC MANE Select ENSP00000278840.4:n.208-2748_208-2740delinsTGCCTCCCC
ENST00000257261.10:c.142-2748_142-2740delinsTGCCTCCCC ENSP00000257261.6:n.142-2748_142-2740delinsTGCCTCCCC
ENST00000278840.8:c.208-2748_208-2740delinsTGCCTCCCC ENSP00000278840.4:n.208-2748_208-2740delinsTGCCTCCCC
ENST00000517312.5:c.-159-2748_-159-2740delinsTGCCTCCCC ENSP00000430225.1:n.-159-2748_-159-2740delinsTGCCTCCCC
ENST00000518606.5:c.-159-2748_-159-2740delinsTGCCTCCCC ENSP00000430054.1:n.-159-2748_-159-2740delinsTGCCTCCCC
ENST00000521849.5:c.208-2748_208-2740delinsTGCCTCCCC ENSP00000431091.1:n.208-2748_208-2740delinsTGCCTCCCC
ENST00000522056.5:c.115-2748_115-2740delinsTGCCTCCCC ENSP00000429500.1:n.115-2748_115-2740delinsTGCCTCCCC
NM_001281501.1:c.142-2748_142-2740delinsTGCCTCCCC NP_001268430.1:n.142-2748_142-2740delinsTGCCTCCCC
NM_001281502.1:c.115-2748_115-2740delinsTGCCTCCCC NP_001268431.1:n.115-2748_115-2740delinsTGCCTCCCC
NM_004265.3:c.208-2748_208-2740delinsTGCCTCCCC NP_004256.1:n.208-2748_208-2740delinsTGCCTCCCC
XM_011545395.1:c.208-2748_208-2740delinsTGCCTCCCC XP_011543697.1:n.208-2748_208-2740delinsTGCCTCCCC
NM_004265.4:c.208-2748_208-2740delinsTGCCTCCCC MANE Select NP_004256.1:n.208-2748_208-2740delinsTGCCTCCCC