Canonical Allele Identifier: CA1325072906

Gene: CPS1

Linked Data

• dbSNP Id: rs1698320659

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210592016_210592022del , CM000664.2:g.210592016_210592022del	GRCh38
NC_000002.11:g.211456740_211456746del , CM000664.1:g.211456740_211456746del	GRCh37
NC_000002.10:g.211164985_211164991del	NCBI36
NG_008285.1:g.119332_119338del , LRG_336:g.119332_119338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.1086+47_1086+53del MANE Select	ENSP00000233072.5:n.1086+47_1086+53del
ENST00000430249.7:c.1104+47_1104+53del	ENSP00000402608.2:n.1104+47_1104+53del
ENST00000673510.1:c.1086+47_1086+53del	ENSP00000500537.1:n.1086+47_1086+53del
ENST00000673630.1:c.1086+47_1086+53del	ENSP00000501073.1:n.1086+47_1086+53del
ENST00000673711.1:c.1086+47_1086+53del	ENSP00000501022.1:n.1086+47_1086+53del
ENST00000233072.9:c.1086+47_1086+53del	ENSP00000233072.5:n.1086+47_1086+53del
ENST00000430249.6:c.1104+47_1104+53del	ENSP00000402608.2:n.1104+47_1104+53del
ENST00000619804.1:c.1086+47_1086+53del	ENSP00000480517.1:n.1086+47_1086+53del
NM_001122633.2:c.1104+47_1104+53del	NP_001116105.1:n.1104+47_1104+53del
NM_001875.4:c.1086+47_1086+53del , LRG_336t1:c.1086+47_1086+53del	NP_001866.2:n.1086+47_1086+53del
XM_011510640.1:c.1119+47_1119+53del	XP_011508942.1:n.1119+47_1119+53del
XM_011510641.1:c.1086+47_1086+53del	XP_011508943.1:n.1086+47_1086+53del
XM_011510642.1:c.1086+47_1086+53del	XP_011508944.1:n.1086+47_1086+53del
XM_011510643.1:c.1086+47_1086+53del	XP_011508945.1:n.1086+47_1086+53del
XM_011510644.1:c.1086+47_1086+53del	XP_011508946.1:n.1086+47_1086+53del
NM_001122633.3:c.1086+47_1086+53del	NP_001116105.2:n.1086+47_1086+53del
NM_001369256.1:c.1119+47_1119+53del	NP_001356185.1:n.1119+47_1119+53del
NM_001369257.1:c.1086+47_1086+53del	NP_001356186.1:n.1086+47_1086+53del
NM_001875.5:c.1086+47_1086+53del MANE Select	NP_001866.2:n.1086+47_1086+53del
NR_161225.1:n.1998+47_1998+53del