Canonical Allele Identifier: CA785244271

Gene: ELOVL6

Linked Data

• dbSNP Id: rs1366633764
• gnomAD v4: 4-110105757-GAGTCT-G
• MyVariant Identifiers: chr4:g.111026914_111026918del (hg19) ; chr4:g.110105758_110105762del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110105764_110105768del , CM000666.2:g.110105764_110105768del	GRCh38
NC_000004.11:g.111026920_111026924del , CM000666.1:g.111026920_111026924del	GRCh37
NC_000004.10:g.111246369_111246373del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302274.8:c.90-134_90-130del MANE Select	ENSP00000304736.3:n.90-134_90-130del
ENST00000302274.7:c.90-134_90-130del	ENSP00000304736.3:n.90-134_90-130del
ENST00000394607.7:c.90-134_90-130del	ENSP00000378105.3:n.90-134_90-130del
ENST00000503885.1:c.90-134_90-130del	ENSP00000426086.1:n.90-134_90-130del
ENST00000506461.1:n.305-134_305-130del
ENST00000506625.5:c.90-134_90-130del	ENSP00000425488.1:n.90-134_90-130del
ENST00000514184.5:c.90-134_90-130del	ENSP00000424023.1:n.90-134_90-130del
NM_001130721.1:c.90-134_90-130del	NP_001124193.1:n.90-134_90-130del
NM_024090.2:c.90-134_90-130del	NP_076995.1:n.90-134_90-130del
XM_011532233.1:c.90-134_90-130del	XP_011530535.1:n.90-134_90-130del
XM_011532234.1:c.90-134_90-130del	XP_011530536.1:n.90-134_90-130del
XM_011532235.1:c.-192-134_-192-130del	XP_011530537.1:n.-192-134_-192-130del
XM_011532233.3:c.90-134_90-130del	XP_011530535.1:n.90-134_90-130del
XM_011532234.3:c.90-134_90-130del	XP_011530536.1:n.90-134_90-130del
NM_001130721.2:c.90-134_90-130del	NP_001124193.1:n.90-134_90-130del
NM_024090.3:c.90-134_90-130del MANE Select	NP_076995.1:n.90-134_90-130del