Canonical Allele Identifier: CA2663204791

Gene: CNPPD1

Linked Data

• gnomAD v4: 2-219172862-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172864dup , CM000664.2:g.219172864dup	GRCh38
NC_000002.11:g.220037586dup , CM000664.1:g.220037586dup	GRCh37
NC_000002.10:g.219745830dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.956dup MANE Select	ENSP00000353698.5:p.Pro320ThrfsTer16
ENST00000360507.9:c.956dup	ENSP00000353698.5:p.Pro320ThrfsTer16
ENST00000409789.5:c.956dup	ENSP00000386277.1:p.Pro320ThrfsTer16
NM_015680.4:c.956dup	NP_056495.3:p.Pro320ThrfsTer16
XM_005246462.2:c.956dup	XP_005246519.1:p.Pro320ThrfsTer16
XM_005246463.3:c.956dup	XP_005246520.1:p.Pro320ThrfsTer16
XM_006712419.1:c.956dup	XP_006712482.1:p.Pro320ThrfsTer16
NM_001321389.1:c.956dup	NP_001308318.1:p.Pro320ThrfsTer16
NM_001321390.1:c.956dup	NP_001308319.1:p.Pro320ThrfsTer16
NM_001321391.1:c.956dup	NP_001308320.1:p.Pro320ThrfsTer16
NM_015680.5:c.956dup	NP_056495.3:p.Pro320ThrfsTer16
NR_135628.1:n.1001dup
NR_135629.1:n.1059dup
XM_024452790.1:c.986dup	XP_024308558.1:p.Pro330ThrfsTer16
NM_015680.6:c.956dup MANE Select	NP_056495.4:p.Pro320ThrfsTer16
NM_001321390.2:c.956dup	NP_001308319.2:p.Pro320ThrfsTer16
NM_001321391.2:c.956dup	NP_001308320.2:p.Pro320ThrfsTer16
NR_135628.2:n.984dup
NR_135629.2:n.991dup
NM_001321389.2:c.956dup	NP_001308318.2:p.Pro320ThrfsTer16