Canonical Allele Identifier: CA2662927269

Gene: CPS1

Linked Data

• gnomAD v4: 2-210608516-GAACATCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608518_210608524del , CM000664.2:g.210608518_210608524del	GRCh38
NC_000002.11:g.211473242_211473248del , CM000664.1:g.211473242_211473248del	GRCh37
NC_000002.10:g.211181487_211181493del	NCBI36
NG_008285.1:g.135834_135840del , LRG_336:g.135834_135840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2350_2356del MANE Select	ENSP00000233072.5:p.Thr784AlafsTer7
ENST00000430249.7:c.2368_2374del	ENSP00000402608.2:p.Thr790AlafsTer7
ENST00000451903.3:c.997_1003del	ENSP00000406136.2:p.Thr333AlafsTer7
ENST00000673510.1:c.2350_2356del	ENSP00000500537.1:p.Thr784AlafsTer7
ENST00000673630.1:c.2350_2356del	ENSP00000501073.1:p.Thr784AlafsTer7
ENST00000673698.1:c.830_836del
ENST00000673711.1:c.2350_2356del	ENSP00000501022.1:p.Thr784AlafsTer7
ENST00000674074.1:n.1495_1501del
ENST00000233072.9:c.2350_2356del	ENSP00000233072.5:p.Thr784AlafsTer7
ENST00000430249.6:c.2368_2374del	ENSP00000402608.2:p.Thr790AlafsTer7
ENST00000451903.2:c.997_1003del	ENSP00000406136.2:p.Thr333AlafsTer7
NM_001122633.2:c.2368_2374del	NP_001116105.1:p.Thr790AlafsTer7
NM_001122634.3:c.997_1003del	NP_001116106.1:p.Thr333AlafsTer7
NM_001875.4:c.2350_2356del , LRG_336t1:c.2350_2356del	NP_001866.2:p.Thr784AlafsTer7
XM_011510640.1:c.2383_2389del	XP_011508942.1:p.Thr795AlafsTer7
XM_011510641.1:c.2350_2356del	XP_011508943.1:p.Thr784AlafsTer7
XM_011510642.1:c.2350_2356del	XP_011508944.1:p.Thr784AlafsTer7
XM_011510643.1:c.2350_2356del	XP_011508945.1:p.Thr784AlafsTer7
XM_011510644.1:c.2350_2356del	XP_011508946.1:p.Thr784AlafsTer7
NM_001122633.3:c.2350_2356del	NP_001116105.2:p.Thr784AlafsTer7
NM_001369256.1:c.2383_2389del	NP_001356185.1:p.Thr795AlafsTer7
NM_001369257.1:c.2350_2356del	NP_001356186.1:p.Thr784AlafsTer7
NM_001875.5:c.2350_2356del MANE Select	NP_001866.2:p.Thr784AlafsTer7
NR_161225.1:n.3259_3265del
NR_163592.1:n.1506_1512del