Canonical Allele Identifier: CA103956712

Gene: ELOVL6

Linked Data

• dbSNP Id: rs758902632
• gnomAD v2: 4-111026391-TC-T
• gnomAD v3: 4-110105235-TC-T
• gnomAD v4: 4-110105235-TC-T
• MyVariant Identifiers: chr4:g.111026392del (hg19) ; chr4:g.110105236del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110105237del , CM000666.2:g.110105237del	GRCh38
NC_000004.11:g.111026393del , CM000666.1:g.111026393del	GRCh37
NC_000004.10:g.111245842del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302274.8:c.221+261del MANE Select	ENSP00000304736.3:n.221+261del
ENST00000302274.7:c.221+261del	ENSP00000304736.3:n.221+261del
ENST00000394607.7:c.221+261del	ENSP00000378105.3:n.221+261del
ENST00000503885.1:c.221+261del	ENSP00000426086.1:n.221+261del
ENST00000506461.1:n.436+261del
ENST00000506625.5:c.221+261del	ENSP00000425488.1:n.221+261del
ENST00000514184.5:c.221+261del	ENSP00000424023.1:n.221+261del
NM_001130721.1:c.221+261del	NP_001124193.1:n.221+261del
NM_024090.2:c.221+261del	NP_076995.1:n.221+261del
XM_011532233.1:c.221+261del	XP_011530535.1:n.221+261del
XM_011532234.1:c.221+261del	XP_011530536.1:n.221+261del
XM_011532235.1:c.-61+261del	XP_011530537.1:n.-61+261del
XM_011532233.3:c.221+261del	XP_011530535.1:n.221+261del
XM_011532234.3:c.221+261del	XP_011530536.1:n.221+261del
NM_001130721.2:c.221+261del	NP_001124193.1:n.221+261del
NM_024090.3:c.221+261del MANE Select	NP_076995.1:n.221+261del