Canonical Allele Identifier: CA1790971287
Gene: CPA6 HGNC NCBI
ARFGEF1-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67483770_67483771delinsCA , CM000670.2:g.67483770_67483771delinsCA GRCh38
NC_000008.10:g.68396005_68396006delinsCA , CM000670.1:g.68396005_68396006delinsCA GRCh37
NC_000008.9:g.68558559_68558560delinsCA NCBI36
NG_027682.1:g.267615_267616delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000297770.10:c.835_836delinsTG (CPA6) MANE Select ENSP00000297770.4:p.Cys279=
ENST00000638254.1:c.*431_*432delinsTG (CPA6) ENSP00000491129.1:n.*431_*432delinsTG
ENST00000297770.8:c.835_836delinsTG (CPA6) ENSP00000297770.4:p.Cys279=
ENST00000479862.6:c.*431_*432delinsTG (CPA6) ENSP00000419016.2:n.*431_*432delinsTG
ENST00000518549.1:c.835_836delinsTG (CPA6) ENSP00000431112.1:p.Cys279=
NM_020361.4:c.835_836delinsTG (CPA6) NP_065094.3:p.Cys279=
XM_011517569.1:c.928_929delinsTG (CPA6) XP_011515871.1:p.Cys310=
XM_011517570.1:c.391_392delinsTG (CPA6) XP_011515872.1:p.Cys131=
NR_136224.1:n.694-7195_694-7194delinsCA (ARFGEF1-DT)
XM_011517570.2:c.391_392delinsTG (CPA6) XP_011515872.1:p.Cys131=
XM_017013646.1:c.391_392delinsTG (CPA6) XP_016869135.1:p.Cys131=
XR_001745565.1:n.1643_1644delinsTG (CPA6)
NM_020361.5:c.835_836delinsTG (CPA6) MANE Select NP_065094.3:p.Cys279=