Canonical Allele Identifier: CA4772850

Gene: CPA6 ARFGEF1-DT

Linked Data

• dbSNP Id: rs763611926
• ExAC: 8:68396065 CT / C
• gnomAD v2: 8-68396065-CT-C
• gnomAD v3: 8-67483830-CT-C
• gnomAD v4: 8-67483830-CT-C
• MyVariant Identifiers: chr8:g.68396066del (hg19) ; chr8:g.67483831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483832del , CM000670.2:g.67483832del	GRCh38
NC_000008.10:g.68396067del , CM000670.1:g.68396067del	GRCh37
NC_000008.9:g.68558621del	NCBI36
NG_027682.1:g.267555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.775del (CPA6) MANE Select	ENSP00000297770.4:p.Arg259GlyfsTer18
ENST00000638254.1:c.*371del (CPA6)	ENSP00000491129.1:n.*371del
ENST00000297770.8:c.775del (CPA6)	ENSP00000297770.4:p.Arg259GlyfsTer18
ENST00000479862.6:c.*371del (CPA6)	ENSP00000419016.2:n.*371del
ENST00000518549.1:c.775del (CPA6)	ENSP00000431112.1:p.Arg259GlyfsTer18
NM_020361.4:c.775del (CPA6)	NP_065094.3:p.Arg259GlyfsTer18
XM_011517569.1:c.868del (CPA6)	XP_011515871.1:p.Arg290GlyfsTer18
XM_011517570.1:c.331del (CPA6)	XP_011515872.1:p.Arg111GlyfsTer18
NR_136224.1:n.694-7133del (ARFGEF1-DT)
XM_011517570.2:c.331del (CPA6)	XP_011515872.1:p.Arg111GlyfsTer18
XM_017013646.1:c.331del (CPA6)	XP_016869135.1:p.Arg111GlyfsTer18
XR_001745565.1:n.1583del (CPA6)
NM_020361.5:c.775del (CPA6) MANE Select	NP_065094.3:p.Arg259GlyfsTer18