Canonical Allele Identifier: CA2663204285

Gene: CNPPD1

Linked Data

• gnomAD v4: 2-219172727-GGACAGCGCAGTGGGGACTGTACGGTTGGGGTGGAGGCAGGCATGGCAGGTTGGGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172729_219172784del , CM000664.2:g.219172729_219172784del	GRCh38
NC_000002.11:g.220037451_220037506del , CM000664.1:g.220037451_220037506del	GRCh37
NC_000002.10:g.219745695_219745750del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.1036_1091del MANE Select	ENSP00000353698.5:p.Ser346GlnfsTer?
ENST00000360507.9:c.1036_1091del	ENSP00000353698.5:p.Ser346GlnfsTer?
ENST00000409789.5:c.1036_1091del	ENSP00000386277.1:p.Ser346GlnfsTer?
NM_015680.4:c.1036_1091del	NP_056495.3:p.Ser346GlnfsTer?
XM_005246462.2:c.1036_1091del	XP_005246519.1:p.Ser346GlnfsTer?
XM_005246463.3:c.1036_1091del	XP_005246520.1:p.Ser346GlnfsTer?
XM_006712419.1:c.1036_1091del	XP_006712482.1:p.Ser346GlnfsTer?
NM_001321389.1:c.1036_1091del	NP_001308318.1:p.Ser346GlnfsTer?
NM_001321390.1:c.1036_1091del	NP_001308319.1:p.Ser346GlnfsTer?
NM_001321391.1:c.1036_1091del	NP_001308320.1:p.Ser346GlnfsTer?
NM_015680.5:c.1036_1091del	NP_056495.3:p.Ser346GlnfsTer?
NR_135628.1:n.1081_1136del
NR_135629.1:n.1139_1194del
XM_024452790.1:c.1066_1121del	XP_024308558.1:p.Ser356GlnfsTer?
NM_015680.6:c.1036_1091del MANE Select	NP_056495.4:p.Ser346GlnfsTer?
NM_001321390.2:c.1036_1091del	NP_001308319.2:p.Ser346GlnfsTer?
NM_001321391.2:c.1036_1091del	NP_001308320.2:p.Ser346GlnfsTer?
NR_135628.2:n.1064_1119del
NR_135629.2:n.1071_1126del
NM_001321389.2:c.1036_1091del	NP_001308318.2:p.Ser346GlnfsTer?