Canonical Allele Identifier: CA2670531442

Gene: COMMD8

Linked Data

• gnomAD v4: 4-47460363-C-CCCAACATTTGTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47460363_47460364insCCAACATTTGTTTG , CM000666.2:g.47460363_47460364insCCAACATTTGTTTG	GRCh38
NC_000004.11:g.47462380_47462381insCCAACATTTGTTTG , CM000666.1:g.47462380_47462381insCCAACATTTGTTTG	GRCh37
NC_000004.10:g.47157137_47157138insCCAACATTTGTTTG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381571.6:c.67-65_67-64insCAAACAAATGTTGG MANE Select	ENSP00000370984.4:n.67-65_67-64insCAAACAAATGTTGG
ENST00000381571.5:c.67-65_67-64insCAAACAAATGTTGG	ENSP00000370984.4:n.67-65_67-64insCAAACAAATGTTGG
ENST00000509220.1:n.81-65_81-64insCAAACAAATGTTGG
NM_017845.3:c.67-65_67-64insCAAACAAATGTTGG	NP_060315.1:n.67-65_67-64insCAAACAAATGTTGG
XM_006714019.1:c.67-65_67-64insCAAACAAATGTTGG	XP_006714082.1:n.67-65_67-64insCAAACAAATGTTGG
NM_001329668.1:c.67-65_67-64insCAAACAAATGTTGG	NP_001316597.1:n.67-65_67-64insCAAACAAATGTTGG
NM_017845.4:c.67-65_67-64insCAAACAAATGTTGG	NP_060315.1:n.67-65_67-64insCAAACAAATGTTGG
XM_017008330.1:c.67-65_67-64insCAAACAAATGTTGG	XP_016863819.1:n.67-65_67-64insCAAACAAATGTTGG
NM_017845.5:c.67-65_67-64insCAAACAAATGTTGG MANE Select	NP_060315.1:n.67-65_67-64insCAAACAAATGTTGG
NM_001329668.2:c.67-65_67-64insCAAACAAATGTTGG	NP_001316597.1:n.67-65_67-64insCAAACAAATGTTGG