Canonical Allele Identifier: CA599520619

Gene: FADS2

Linked Data

• dbSNP Id: rs1406686277
• gnomAD v2: 11-61605405-GGGT-G
• gnomAD v4: 11-61837933-GGGT-G
• MyVariant Identifiers: chr11:g.61605406_61605408del (hg19) ; chr11:g.61837934_61837936del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61837936_61837938del , CM000673.2:g.61837936_61837938del	GRCh38
NC_000011.9:g.61605408_61605410del , CM000673.1:g.61605408_61605410del	GRCh37
NC_000011.8:g.61361984_61361986del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278840.9:c.318+48_318+50del MANE Select	ENSP00000278840.4:n.318+48_318+50del
ENST00000257261.10:c.252+48_252+50del	ENSP00000257261.6:n.252+48_252+50del
ENST00000278840.8:c.318+48_318+50del	ENSP00000278840.4:n.318+48_318+50del
ENST00000517312.5:c.-49+48_-49+50del	ENSP00000430225.1:n.-49+48_-49+50del
ENST00000518606.5:c.-49+48_-49+50del	ENSP00000430054.1:n.-49+48_-49+50del
ENST00000521849.5:c.318+48_318+50del	ENSP00000431091.1:n.318+48_318+50del
ENST00000522056.5:c.225+48_225+50del	ENSP00000429500.1:n.225+48_225+50del
NM_001281501.1:c.252+48_252+50del	NP_001268430.1:n.252+48_252+50del
NM_001281502.1:c.225+48_225+50del	NP_001268431.1:n.225+48_225+50del
NM_004265.3:c.318+48_318+50del	NP_004256.1:n.318+48_318+50del
XM_011545395.1:c.318+48_318+50del	XP_011543697.1:n.318+48_318+50del
NM_004265.4:c.318+48_318+50del MANE Select	NP_004256.1:n.318+48_318+50del