Canonical Allele Identifier: CA2577249052

Gene: CNPPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219173085_219173089del , CM000664.2:g.219173085_219173089del	GRCh38
NC_000002.11:g.220037807_220037811del , CM000664.1:g.220037807_220037811del	GRCh37
NC_000002.10:g.219746051_219746055del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.731_735del MANE Select	ENSP00000353698.5:p.Ala244GlyfsTer24
ENST00000360507.9:c.731_735del	ENSP00000353698.5:p.Ala244GlyfsTer24
ENST00000409789.5:c.731_735del	ENSP00000386277.1:p.Ala244GlyfsTer24
ENST00000451647.1:c.812_816del	ENSP00000405997.1:p.Ala271GlyfsTer?
ENST00000453038.5:c.731_735del	ENSP00000410109.1:p.Ala244GlyfsTer24
NM_015680.4:c.731_735del	NP_056495.3:p.Ala244GlyfsTer24
XM_005246462.2:c.731_735del	XP_005246519.1:p.Ala244GlyfsTer24
XM_005246463.3:c.731_735del	XP_005246520.1:p.Ala244GlyfsTer24
XM_006712419.1:c.731_735del	XP_006712482.1:p.Ala244GlyfsTer24
NM_001321389.1:c.731_735del	NP_001308318.1:p.Ala244GlyfsTer24
NM_001321390.1:c.731_735del	NP_001308319.1:p.Ala244GlyfsTer24
NM_001321391.1:c.731_735del	NP_001308320.1:p.Ala244GlyfsTer24
NM_015680.5:c.731_735del	NP_056495.3:p.Ala244GlyfsTer24
NR_135628.1:n.776_780del
NR_135629.1:n.834_838del
XM_024452790.1:c.761_765del	XP_024308558.1:p.Ala254GlyfsTer24
NM_015680.6:c.731_735del MANE Select	NP_056495.4:p.Ala244GlyfsTer24
NM_001321390.2:c.731_735del	NP_001308319.2:p.Ala244GlyfsTer24
NM_001321391.2:c.731_735del	NP_001308320.2:p.Ala244GlyfsTer24
NR_135628.2:n.759_763del
NR_135629.2:n.766_770del
NM_001321389.2:c.731_735del	NP_001308318.2:p.Ala244GlyfsTer24