Canonical Allele Identifier: CA2577249051

Gene: CNPPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172944del , CM000664.2:g.219172944del	GRCh38
NC_000002.11:g.220037666del , CM000664.1:g.220037666del	GRCh37
NC_000002.10:g.219745910del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.875del MANE Select	ENSP00000353698.5:p.Leu292ProfsTer25
ENST00000360507.9:c.875del	ENSP00000353698.5:p.Leu292ProfsTer25
ENST00000409789.5:c.875del	ENSP00000386277.1:p.Leu292ProfsTer25
ENST00000453038.5:c.875del	ENSP00000410109.1:p.Leu292ProfsTer?
NM_015680.4:c.875del	NP_056495.3:p.Leu292ProfsTer25
XM_005246462.2:c.875del	XP_005246519.1:p.Leu292ProfsTer25
XM_005246463.3:c.875del	XP_005246520.1:p.Leu292ProfsTer25
XM_006712419.1:c.875del	XP_006712482.1:p.Leu292ProfsTer25
NM_001321389.1:c.875del	NP_001308318.1:p.Leu292ProfsTer25
NM_001321390.1:c.875del	NP_001308319.1:p.Leu292ProfsTer25
NM_001321391.1:c.875del	NP_001308320.1:p.Leu292ProfsTer25
NM_015680.5:c.875del	NP_056495.3:p.Leu292ProfsTer25
NR_135628.1:n.920del
NR_135629.1:n.978del
XM_024452790.1:c.905del	XP_024308558.1:p.Leu302ProfsTer25
NM_015680.6:c.875del MANE Select	NP_056495.4:p.Leu292ProfsTer25
NM_001321390.2:c.875del	NP_001308319.2:p.Leu292ProfsTer25
NM_001321391.2:c.875del	NP_001308320.2:p.Leu292ProfsTer25
NR_135628.2:n.903del
NR_135629.2:n.910del
NM_001321389.2:c.875del	NP_001308318.2:p.Leu292ProfsTer25