Canonical Allele Identifier: CA938621852

Gene: FADS2

Linked Data

• gnomAD v3: 11-61834963-TGGGCCTCCTCCCTGCCTGCCCCCCCACCCCAGCCCTCCTCCCTGCCTGCCCCCA-T
• gnomAD v4: 11-61834963-TGGGCCTCCTCCCTGCCTGCCCCCCCACCCCAGCCCTCCTCCCTGCCTGCCCCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61834981_61835034del , CM000673.2:g.61834981_61835034del	GRCh38
NC_000011.9:g.61602453_61602506del , CM000673.1:g.61602453_61602506del	GRCh37
NC_000011.8:g.61359029_61359082del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000278840.9:c.208-2797_208-2744del MANE Select	ENSP00000278840.4:n.208-2797_208-2744del
ENST00000257261.10:c.142-2797_142-2744del	ENSP00000257261.6:n.142-2797_142-2744del
ENST00000278840.8:c.208-2797_208-2744del	ENSP00000278840.4:n.208-2797_208-2744del
ENST00000517312.5:c.-159-2797_-159-2744del	ENSP00000430225.1:n.-159-2797_-159-2744de...
ENST00000518606.5:c.-159-2797_-159-2744del	ENSP00000430054.1:n.-159-2797_-159-2744de...
ENST00000521849.5:c.208-2797_208-2744del	ENSP00000431091.1:n.208-2797_208-2744del
ENST00000522056.5:c.115-2797_115-2744del	ENSP00000429500.1:n.115-2797_115-2744del
NM_001281501.1:c.142-2797_142-2744del	NP_001268430.1:n.142-2797_142-2744del
NM_001281502.1:c.115-2797_115-2744del	NP_001268431.1:n.115-2797_115-2744del
NM_004265.3:c.208-2797_208-2744del	NP_004256.1:n.208-2797_208-2744del
XM_011545395.1:c.208-2797_208-2744del	XP_011543697.1:n.208-2797_208-2744del
NM_004265.4:c.208-2797_208-2744del MANE Select	NP_004256.1:n.208-2797_208-2744del