Canonical Allele Identifier: CA10603892

Gene: CPS1

Linked Data

• ClinVar Variation Id: 281476
• ClinVar RCV Id: RCV002494816 ; RCV003243036
• dbSNP Id: rs386654705
• MyVariant Identifiers: chr2:g.211456637_211456639delinsGCT (hg19) ; chr2:g.210591913_210591915delinsGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210591913_210591915delinsGCT , CM000664.2:g.210591913_210591915delinsGCT	GRCh38
NC_000002.11:g.211456637_211456639delinsGCT , CM000664.1:g.211456637_211456639delinsGCT	GRCh37
NC_000002.10:g.211164882_211164884delinsGCT	NCBI36
NG_008285.1:g.119229_119231delinsGCT , LRG_336:g.119229_119231delinsGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000233072.10:c.1030_1032delinsGCT MANE Select	ENSP00000233072.5:p.Thr344Ala
ENST00000430249.7:c.1048_1050delinsGCT	ENSP00000402608.2:p.Thr350Ala
ENST00000673510.1:c.1030_1032delinsGCT	ENSP00000500537.1:p.Thr344Ala
ENST00000673630.1:c.1030_1032delinsGCT	ENSP00000501073.1:p.Thr344Ala
ENST00000673711.1:c.1030_1032delinsGCT	ENSP00000501022.1:p.Thr344Ala
ENST00000233072.9:c.1030_1032delinsGCT	ENSP00000233072.5:p.Thr344Ala
ENST00000430249.6:c.1048_1050delinsGCT	ENSP00000402608.2:p.Thr350Ala
ENST00000619804.1:c.1030_1032delinsGCT	ENSP00000480517.1:p.Thr344Ala
NM_001122633.2:c.1048_1050delinsGCT	NP_001116105.1:p.Thr350Ala
NM_001875.4:c.1030_1032delinsGCT , LRG_336t1:c.1030_1032delinsGCT	NP_001866.2:p.Thr344Ala
XM_011510640.1:c.1063_1065delinsGCT	XP_011508942.1:p.Thr355Ala
XM_011510641.1:c.1030_1032delinsGCT	XP_011508943.1:p.Thr344Ala
XM_011510642.1:c.1030_1032delinsGCT	XP_011508944.1:p.Thr344Ala
XM_011510643.1:c.1030_1032delinsGCT	XP_011508945.1:p.Thr344Ala
XM_011510644.1:c.1030_1032delinsGCT	XP_011508946.1:p.Thr344Ala
NM_001122633.3:c.1030_1032delinsGCT	NP_001116105.2:p.Thr344Ala
NM_001369256.1:c.1063_1065delinsGCT	NP_001356185.1:p.Thr355Ala
NM_001369257.1:c.1030_1032delinsGCT	NP_001356186.1:p.Thr344Ala
NM_001875.5:c.1030_1032delinsGCT MANE Select	NP_001866.2:p.Thr344Ala
NR_161225.1:n.1942_1944delinsGCT