Canonical Allele Identifier: CA1790971455

Gene: CPA6 ARFGEF1-DT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483854_67483856delinsCGA , CM000670.2:g.67483854_67483856delinsCGA	GRCh38
NC_000008.10:g.68396089_68396091delinsCGA , CM000670.1:g.68396089_68396091delinsCGA	GRCh37
NC_000008.9:g.68558643_68558645delinsCGA	NCBI36
NG_027682.1:g.267530_267532delinsTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.750_752delinsTCG (CPA6) MANE Select	ENSP00000297770.4:p.Asp250=
ENST00000638254.1:c.*346_*348delinsTCG (CPA6)	ENSP00000491129.1:n.*346_*348delinsTCG
ENST00000297770.8:c.750_752delinsTCG (CPA6)	ENSP00000297770.4:p.Asp250=
ENST00000479862.6:c.*346_*348delinsTCG (CPA6)	ENSP00000419016.2:n.*346_*348delinsTCG
ENST00000518549.1:c.750_752delinsTCG (CPA6)	ENSP00000431112.1:p.Asp250=
NM_020361.4:c.750_752delinsTCG (CPA6)	NP_065094.3:p.Asp250=
XM_011517569.1:c.843_845delinsTCG (CPA6)	XP_011515871.1:p.Asp281=
XM_011517570.1:c.306_308delinsTCG (CPA6)	XP_011515872.1:p.Asp102=
NR_136224.1:n.694-7111_694-7109delinsCGA (ARFGEF1-DT)
XM_011517570.2:c.306_308delinsTCG (CPA6)	XP_011515872.1:p.Asp102=
XM_017013646.1:c.306_308delinsTCG (CPA6)	XP_016869135.1:p.Asp102=
XR_001745565.1:n.1558_1560delinsTCG (CPA6)
NM_020361.5:c.750_752delinsTCG (CPA6) MANE Select	NP_065094.3:p.Asp250=