Canonical Allele Identifier: CA2540271130

Gene: CPS1

Linked Data

• gnomAD v4: 2-210608329-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608337_210608338dup , CM000664.2:g.210608337_210608338dup	GRCh38
NC_000002.11:g.211473061_211473062dup , CM000664.1:g.211473061_211473062dup	GRCh37
NC_000002.10:g.211181306_211181307dup	NCBI36
NG_008285.1:g.135653_135654dup , LRG_336:g.135653_135654dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2193-24_2193-23dup MANE Select	ENSP00000233072.5:n.2193-24_2193-23dup
ENST00000430249.7:c.2211-24_2211-23dup	ENSP00000402608.2:n.2211-24_2211-23dup
ENST00000451903.3:c.840-24_840-23dup	ENSP00000406136.2:n.840-24_840-23dup
ENST00000673510.1:c.2193-24_2193-23dup	ENSP00000500537.1:n.2193-24_2193-23dup
ENST00000673630.1:c.2193-24_2193-23dup	ENSP00000501073.1:n.2193-24_2193-23dup
ENST00000673698.1:c.673-24_673-23dup
ENST00000673711.1:c.2193-24_2193-23dup	ENSP00000501022.1:n.2193-24_2193-23dup
ENST00000674074.1:n.1338-24_1338-23dup
ENST00000233072.9:c.2193-24_2193-23dup	ENSP00000233072.5:n.2193-24_2193-23dup
ENST00000430249.6:c.2211-24_2211-23dup	ENSP00000402608.2:n.2211-24_2211-23dup
ENST00000451903.2:c.840-24_840-23dup	ENSP00000406136.2:n.840-24_840-23dup
NM_001122633.2:c.2211-24_2211-23dup	NP_001116105.1:n.2211-24_2211-23dup
NM_001122634.3:c.840-24_840-23dup	NP_001116106.1:n.840-24_840-23dup
NM_001875.4:c.2193-24_2193-23dup , LRG_336t1:c.2193-24_2193-23dup	NP_001866.2:n.2193-24_2193-23dup
XM_011510640.1:c.2226-24_2226-23dup	XP_011508942.1:n.2226-24_2226-23dup
XM_011510641.1:c.2193-24_2193-23dup	XP_011508943.1:n.2193-24_2193-23dup
XM_011510642.1:c.2193-24_2193-23dup	XP_011508944.1:n.2193-24_2193-23dup
XM_011510643.1:c.2193-24_2193-23dup	XP_011508945.1:n.2193-24_2193-23dup
XM_011510644.1:c.2193-24_2193-23dup	XP_011508946.1:n.2193-24_2193-23dup
NM_001122633.3:c.2193-24_2193-23dup	NP_001116105.2:n.2193-24_2193-23dup
NM_001369256.1:c.2226-24_2226-23dup	NP_001356185.1:n.2226-24_2226-23dup
NM_001369257.1:c.2193-24_2193-23dup	NP_001356186.1:n.2193-24_2193-23dup
NM_001875.5:c.2193-24_2193-23dup MANE Select	NP_001866.2:n.2193-24_2193-23dup
NR_161225.1:n.3102-24_3102-23dup
NR_163592.1:n.1349-24_1349-23dup