Canonical Allele Identifier: CA795486224

Gene: COMMD8

Linked Data

• dbSNP Id: rs1367642020
• gnomAD v3: 4-47460365-TAAC-T
• gnomAD v4: 4-47460365-TAAC-T
• MyVariant Identifiers: chr4:g.47462383_47462385del (hg19) ; chr4:g.47460366_47460368del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47460368_47460370del , CM000666.2:g.47460368_47460370del	GRCh38
NC_000004.11:g.47462385_47462387del , CM000666.1:g.47462385_47462387del	GRCh37
NC_000004.10:g.47157142_47157144del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381571.6:c.67-69_67-67del MANE Select	ENSP00000370984.4:n.67-69_67-67del
ENST00000381571.5:c.67-69_67-67del	ENSP00000370984.4:n.67-69_67-67del
ENST00000509220.1:n.81-69_81-67del
NM_017845.3:c.67-69_67-67del	NP_060315.1:n.67-69_67-67del
XM_006714019.1:c.67-69_67-67del	XP_006714082.1:n.67-69_67-67del
NM_001329668.1:c.67-69_67-67del	NP_001316597.1:n.67-69_67-67del
NM_017845.4:c.67-69_67-67del	NP_060315.1:n.67-69_67-67del
XM_017008330.1:c.67-69_67-67del	XP_016863819.1:n.67-69_67-67del
NM_017845.5:c.67-69_67-67del MANE Select	NP_060315.1:n.67-69_67-67del
NM_001329668.2:c.67-69_67-67del	NP_001316597.1:n.67-69_67-67del