Canonical Allele Identifier: CA2662927285

Gene: CPS1

Linked Data

• gnomAD v4: 2-210608596-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608597_210608598del , CM000664.2:g.210608597_210608598del	GRCh38
NC_000002.11:g.211473321_211473322del , CM000664.1:g.211473321_211473322del	GRCh37
NC_000002.10:g.211181566_211181567del	NCBI36
NG_008285.1:g.135913_135914del , LRG_336:g.135913_135914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2391+38_2391+39del MANE Select	ENSP00000233072.5:n.2391+38_2391+39del
ENST00000430249.7:c.2409+38_2409+39del	ENSP00000402608.2:n.2409+38_2409+39del
ENST00000451903.3:c.1038+38_1038+39del	ENSP00000406136.2:n.1038+38_1038+39del
ENST00000673510.1:c.2391+38_2391+39del	ENSP00000500537.1:n.2391+38_2391+39del
ENST00000673630.1:c.2391+38_2391+39del	ENSP00000501073.1:n.2391+38_2391+39del
ENST00000673698.1:c.871+38_871+39del
ENST00000673711.1:c.2391+38_2391+39del	ENSP00000501022.1:n.2391+38_2391+39del
ENST00000674074.1:n.1536+38_1536+39del
ENST00000233072.9:c.2391+38_2391+39del	ENSP00000233072.5:n.2391+38_2391+39del
ENST00000430249.6:c.2409+38_2409+39del	ENSP00000402608.2:n.2409+38_2409+39del
ENST00000451903.2:c.1038+38_1038+39del	ENSP00000406136.2:n.1038+38_1038+39del
NM_001122633.2:c.2409+38_2409+39del	NP_001116105.1:n.2409+38_2409+39del
NM_001122634.3:c.1038+38_1038+39del	NP_001116106.1:n.1038+38_1038+39del
NM_001875.4:c.2391+38_2391+39del , LRG_336t1:c.2391+38_2391+39del	NP_001866.2:n.2391+38_2391+39del
XM_011510640.1:c.2424+38_2424+39del	XP_011508942.1:n.2424+38_2424+39del
XM_011510641.1:c.2391+38_2391+39del	XP_011508943.1:n.2391+38_2391+39del
XM_011510642.1:c.2391+38_2391+39del	XP_011508944.1:n.2391+38_2391+39del
XM_011510643.1:c.2391+38_2391+39del	XP_011508945.1:n.2391+38_2391+39del
XM_011510644.1:c.2391+38_2391+39del	XP_011508946.1:n.2391+38_2391+39del
NM_001122633.3:c.2391+38_2391+39del	NP_001116105.2:n.2391+38_2391+39del
NM_001369256.1:c.2424+38_2424+39del	NP_001356185.1:n.2424+38_2424+39del
NM_001369257.1:c.2391+38_2391+39del	NP_001356186.1:n.2391+38_2391+39del
NM_001875.5:c.2391+38_2391+39del MANE Select	NP_001866.2:n.2391+38_2391+39del
NR_161225.1:n.3300+38_3300+39del
NR_163592.1:n.1547+38_1547+39del