Canonical Allele Identifier: CA2586971231

Gene: CPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608420del , CM000664.2:g.210608420del	GRCh38
NC_000002.11:g.211473144del , CM000664.1:g.211473144del	GRCh37
NC_000002.10:g.211181389del	NCBI36
NG_008285.1:g.135736del , LRG_336:g.135736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2252del MANE Select	ENSP00000233072.5:p.Lys751ArgfsTer?
ENST00000430249.7:c.2270del	ENSP00000402608.2:p.Lys757ArgfsTer?
ENST00000451903.3:c.899del	ENSP00000406136.2:p.Lys300ArgfsTer?
ENST00000673510.1:c.2252del	ENSP00000500537.1:p.Lys751ArgfsTer?
ENST00000673630.1:c.2252del	ENSP00000501073.1:p.Lys751ArgfsTer?
ENST00000673698.1:c.732del
ENST00000673711.1:c.2252del	ENSP00000501022.1:p.Lys751ArgfsTer?
ENST00000674074.1:n.1397del
ENST00000233072.9:c.2252del	ENSP00000233072.5:p.Lys751ArgfsTer?
ENST00000430249.6:c.2270del	ENSP00000402608.2:p.Lys757ArgfsTer?
ENST00000451903.2:c.899del	ENSP00000406136.2:p.Lys300ArgfsTer?
NM_001122633.2:c.2270del	NP_001116105.1:p.Lys757ArgfsTer?
NM_001122634.3:c.899del	NP_001116106.1:p.Lys300ArgfsTer?
NM_001875.4:c.2252del , LRG_336t1:c.2252del	NP_001866.2:p.Lys751ArgfsTer?
XM_011510640.1:c.2285del	XP_011508942.1:p.Lys762ArgfsTer?
XM_011510641.1:c.2252del	XP_011508943.1:p.Lys751ArgfsTer?
XM_011510642.1:c.2252del	XP_011508944.1:p.Lys751ArgfsTer?
XM_011510643.1:c.2252del	XP_011508945.1:p.Lys751ArgfsTer?
XM_011510644.1:c.2252del	XP_011508946.1:p.Lys751ArgfsTer?
NM_001122633.3:c.2252del	NP_001116105.2:p.Lys751ArgfsTer?
NM_001369256.1:c.2285del	NP_001356185.1:p.Lys762ArgfsTer?
NM_001369257.1:c.2252del	NP_001356186.1:p.Lys751ArgfsTer?
NM_001875.5:c.2252del MANE Select	NP_001866.2:p.Lys751ArgfsTer?
NR_161225.1:n.3161del
NR_163592.1:n.1408del