Canonical Allele Identifier: CA2739278018

Gene: CPS1

Linked Data

• ClinVar Variation Id: 2825716
• ClinVar RCV Id: RCV003604387

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210591813_210591814del , CM000664.2:g.210591813_210591814del	GRCh38
NC_000002.11:g.211456537_211456538del , CM000664.1:g.211456537_211456538del	GRCh37
NC_000002.10:g.211164782_211164783del	NCBI36
NG_008285.1:g.119129_119130del , LRG_336:g.119129_119130del

Transcript Alleles

HGVS	Amino-acid change
ENST00000233072.10:c.948-18_948-17del MANE Select	ENSP00000233072.5:n.948-18_948-17del
ENST00000430249.7:c.966-18_966-17del	ENSP00000402608.2:n.966-18_966-17del
ENST00000673510.1:c.948-18_948-17del	ENSP00000500537.1:n.948-18_948-17del
ENST00000673630.1:c.948-18_948-17del	ENSP00000501073.1:n.948-18_948-17del
ENST00000673711.1:c.948-18_948-17del	ENSP00000501022.1:n.948-18_948-17del
ENST00000233072.9:c.948-18_948-17del	ENSP00000233072.5:n.948-18_948-17del
ENST00000430249.6:c.966-18_966-17del	ENSP00000402608.2:n.966-18_966-17del
ENST00000619804.1:c.948-18_948-17del	ENSP00000480517.1:n.948-18_948-17del
NM_001122633.2:c.966-18_966-17del	NP_001116105.1:n.966-18_966-17del
NM_001875.4:c.948-18_948-17del , LRG_336t1:c.948-18_948-17del	NP_001866.2:n.948-18_948-17del
XM_011510640.1:c.981-18_981-17del	XP_011508942.1:n.981-18_981-17del
XM_011510641.1:c.948-18_948-17del	XP_011508943.1:n.948-18_948-17del
XM_011510642.1:c.948-18_948-17del	XP_011508944.1:n.948-18_948-17del
XM_011510643.1:c.948-18_948-17del	XP_011508945.1:n.948-18_948-17del
XM_011510644.1:c.948-18_948-17del	XP_011508946.1:n.948-18_948-17del
NM_001122633.3:c.948-18_948-17del	NP_001116105.2:n.948-18_948-17del
NM_001369256.1:c.981-18_981-17del	NP_001356185.1:n.981-18_981-17del
NM_001369257.1:c.948-18_948-17del	NP_001356186.1:n.948-18_948-17del
NM_001875.5:c.948-18_948-17del MANE Select	NP_001866.2:n.948-18_948-17del
NR_161225.1:n.1860-18_1860-17del