Canonical Allele Identifier: CA764156230

Gene: CPS1

Linked Data

• dbSNP Id: rs1488484769
• gnomAD v4: 2-210675670-TC-T
• MyVariant Identifiers: chr2:g.211540395del (hg19) ; chr2:g.210675671del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210675672del , CM000664.2:g.210675672del	GRCh38
NC_000002.11:g.211540396del , CM000664.1:g.211540396del	GRCh37
NC_000002.10:g.211248641del	NCBI36
NG_008285.1:g.202988del , LRG_336:g.202988del

Transcript Alleles

HGVS	Amino-acid change
ENST00000233072.10:c.4162-56del MANE Select	ENSP00000233072.5:n.4162-56del
ENST00000430249.7:c.4180-56del	ENSP00000402608.2:n.4180-56del
ENST00000451903.3:c.2809-56del	ENSP00000406136.2:n.2809-56del
ENST00000645825.1:n.827-56del
ENST00000671984.1:n.310-56del
ENST00000673510.1:c.4162-56del	ENSP00000500537.1:n.4162-56del
ENST00000673630.1:c.4162-56del	ENSP00000501073.1:n.4162-56del
ENST00000673698.1:c.2785-56del
ENST00000673711.1:c.4162-56del	ENSP00000501022.1:n.4162-56del
ENST00000674074.1:n.3307-56del
ENST00000233072.9:c.4162-56del	ENSP00000233072.5:n.4162-56del
ENST00000430249.6:c.4180-56del	ENSP00000402608.2:n.4180-56del
ENST00000451903.2:c.2809-56del	ENSP00000406136.2:n.2809-56del
ENST00000479988.1:n.3348-56del
NM_001122633.2:c.4180-56del	NP_001116105.1:n.4180-56del
NM_001122634.3:c.2809-56del	NP_001116106.1:n.2809-56del
NM_001875.4:c.4162-56del , LRG_336t1:c.4162-56del	NP_001866.2:n.4162-56del
XM_011510640.1:c.4195-56del	XP_011508942.1:n.4195-56del
XM_011510641.1:c.4162-56del	XP_011508943.1:n.4162-56del
XM_011510642.1:c.4162-56del	XP_011508944.1:n.4162-56del
XM_011510643.1:c.4162-56del	XP_011508945.1:n.4162-56del
XM_011510644.1:c.4162-56del	XP_011508946.1:n.4162-56del
NM_001122633.3:c.4162-56del	NP_001116105.2:n.4162-56del
NM_001369256.1:c.4195-56del	NP_001356185.1:n.4195-56del
NM_001369257.1:c.4162-56del	NP_001356186.1:n.4162-56del
NM_001875.5:c.4162-56del MANE Select	NP_001866.2:n.4162-56del
NR_161225.1:n.5071-56del
NR_163592.1:n.3318-56del