Canonical Allele Identifier: CA1790971426
Gene: CPA6 HGNC NCBI
ARFGEF1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1811412297

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.67483844dup , CM000670.2:g.67483844dup GRCh38
NC_000008.10:g.68396079dup , CM000670.1:g.68396079dup GRCh37
NC_000008.9:g.68558633dup NCBI36
NG_027682.1:g.267546dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297770.10:c.766dup (CPA6) MANE Select ENSP00000297770.4:p.Thr256AsnfsTer17
ENST00000638254.1:c.*362dup (CPA6) ENSP00000491129.1:n.*362dup
ENST00000297770.8:c.766dup (CPA6) ENSP00000297770.4:p.Thr256AsnfsTer17
ENST00000479862.6:c.*362dup (CPA6) ENSP00000419016.2:n.*362dup
ENST00000518549.1:c.766dup (CPA6) ENSP00000431112.1:p.Thr256AsnfsTer17
NM_020361.4:c.766dup (CPA6) NP_065094.3:p.Thr256AsnfsTer17
XM_011517569.1:c.859dup (CPA6) XP_011515871.1:p.Thr287AsnfsTer17
XM_011517570.1:c.322dup (CPA6) XP_011515872.1:p.Thr108AsnfsTer17
NR_136224.1:n.694-7121dup (ARFGEF1-DT)
XM_011517570.2:c.322dup (CPA6) XP_011515872.1:p.Thr108AsnfsTer17
XM_017013646.1:c.322dup (CPA6) XP_016869135.1:p.Thr108AsnfsTer17
XR_001745565.1:n.1574dup (CPA6)
NM_020361.5:c.766dup (CPA6) MANE Select NP_065094.3:p.Thr256AsnfsTer17