Canonical Allele Identifier: CA1329092192

Gene: CNPPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219172837_219172838delinsCA , CM000664.2:g.219172837_219172838delinsCA	GRCh38
NC_000002.11:g.220037559_220037560delinsCA , CM000664.1:g.220037559_220037560delinsCA	GRCh37
NC_000002.10:g.219745803_219745804delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360507.10:c.981_982delinsTG MANE Select	ENSP00000353698.5:p.Pro327=
ENST00000360507.9:c.981_982delinsTG	ENSP00000353698.5:p.Pro327=
ENST00000409789.5:c.981_982delinsTG	ENSP00000386277.1:p.Pro327=
NM_015680.4:c.981_982delinsTG	NP_056495.3:p.Pro327=
XM_005246462.2:c.981_982delinsTG	XP_005246519.1:p.Pro327=
XM_005246463.3:c.981_982delinsTG	XP_005246520.1:p.Pro327=
XM_006712419.1:c.981_982delinsTG	XP_006712482.1:p.Pro327=
NM_001321389.1:c.981_982delinsTG	NP_001308318.1:p.Pro327=
NM_001321390.1:c.981_982delinsTG	NP_001308319.1:p.Pro327=
NM_001321391.1:c.981_982delinsTG	NP_001308320.1:p.Pro327=
NM_015680.5:c.981_982delinsTG	NP_056495.3:p.Pro327=
NR_135628.1:n.1026_1027delinsTG
NR_135629.1:n.1084_1085delinsTG
XM_024452790.1:c.1011_1012delinsTG	XP_024308558.1:p.Pro337=
NM_015680.6:c.981_982delinsTG MANE Select	NP_056495.4:p.Pro327=
NM_001321390.2:c.981_982delinsTG	NP_001308319.2:p.Pro327=
NM_001321391.2:c.981_982delinsTG	NP_001308320.2:p.Pro327=
NR_135628.2:n.1009_1010delinsTG
NR_135629.2:n.1016_1017delinsTG
NM_001321389.2:c.981_982delinsTG	NP_001308318.2:p.Pro327=