Canonical Allele Identifier: CA96644192

Gene: COMMD8

Linked Data

• dbSNP Id: rs948072766
• gnomAD v3: 4-47460372-CAAAT-C
• gnomAD v4: 4-47460372-CAAAT-C
• MyVariant Identifiers: chr4:g.47462390_47462393del (hg19) ; chr4:g.47460373_47460376del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47460373_47460376del , CM000666.2:g.47460373_47460376del	GRCh38
NC_000004.11:g.47462390_47462393del , CM000666.1:g.47462390_47462393del	GRCh37
NC_000004.10:g.47157147_47157150del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381571.6:c.67-77_67-74del MANE Select	ENSP00000370984.4:n.67-77_67-74del
ENST00000381571.5:c.67-77_67-74del	ENSP00000370984.4:n.67-77_67-74del
ENST00000509220.1:n.81-77_81-74del
NM_017845.3:c.67-77_67-74del	NP_060315.1:n.67-77_67-74del
XM_006714019.1:c.67-77_67-74del	XP_006714082.1:n.67-77_67-74del
NM_001329668.1:c.67-77_67-74del	NP_001316597.1:n.67-77_67-74del
NM_017845.4:c.67-77_67-74del	NP_060315.1:n.67-77_67-74del
XM_017008330.1:c.67-77_67-74del	XP_016863819.1:n.67-77_67-74del
NM_017845.5:c.67-77_67-74del MANE Select	NP_060315.1:n.67-77_67-74del
NM_001329668.2:c.67-77_67-74del	NP_001316597.1:n.67-77_67-74del