Canonical Allele Identifier: CA539127238

Gene: CPS1

Linked Data

• dbSNP Id: rs1461702526
• gnomAD v2: 2-211473273-G-GAAGACAAATTTATT
• MyVariant Identifiers: chr2:g.211473273_211473274insAAGACAAATTTATT (hg19) ; chr2:g.210608549_210608550insAAGACAAATTTATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608549_210608550insAAGACAAATTTATT , CM000664.2:g.210608549_210608550insAAGACAAATTTATT	GRCh38
NC_000002.11:g.211473273_211473274insAAGACAAATTTATT , CM000664.1:g.211473273_211473274insAAGACAAATTTATT	GRCh37
NC_000002.10:g.211181518_211181519insAAGACAAATTTATT	NCBI36
NG_008285.1:g.135865_135866insAAGACAAATTTATT , LRG_336:g.135865_135866insAAGACAAATTTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2381_2382insAAGACAAATTTATT MANE Select	ENSP00000233072.5:p.Ser794ArgfsTer7
ENST00000430249.7:c.2399_2400insAAGACAAATTTATT	ENSP00000402608.2:p.Ser800ArgfsTer7
ENST00000451903.3:c.1028_1029insAAGACAAATTTATT	ENSP00000406136.2:p.Ser343ArgfsTer7
ENST00000673510.1:c.2381_2382insAAGACAAATTTATT	ENSP00000500537.1:p.Ser794ArgfsTer7
ENST00000673630.1:c.2381_2382insAAGACAAATTTATT	ENSP00000501073.1:p.Ser794ArgfsTer7
ENST00000673698.1:c.861_862insAAGACAAATTTATT
ENST00000673711.1:c.2381_2382insAAGACAAATTTATT	ENSP00000501022.1:p.Ser794ArgfsTer7
ENST00000674074.1:n.1526_1527insAAGACAAATTTATT
ENST00000233072.9:c.2381_2382insAAGACAAATTTATT	ENSP00000233072.5:p.Ser794ArgfsTer7
ENST00000430249.6:c.2399_2400insAAGACAAATTTATT	ENSP00000402608.2:p.Ser800ArgfsTer7
ENST00000451903.2:c.1028_1029insAAGACAAATTTATT	ENSP00000406136.2:p.Ser343ArgfsTer7
NM_001122633.2:c.2399_2400insAAGACAAATTTATT	NP_001116105.1:p.Ser800ArgfsTer7
NM_001122634.3:c.1028_1029insAAGACAAATTTATT	NP_001116106.1:p.Ser343ArgfsTer7
NM_001875.4:c.2381_2382insAAGACAAATTTATT , LRG_336t1:c.2381_2382insAAGACAAATTTATT	NP_001866.2:p.Ser794ArgfsTer7
XM_011510640.1:c.2414_2415insAAGACAAATTTATT	XP_011508942.1:p.Ser805ArgfsTer7
XM_011510641.1:c.2381_2382insAAGACAAATTTATT	XP_011508943.1:p.Ser794ArgfsTer7
XM_011510642.1:c.2381_2382insAAGACAAATTTATT	XP_011508944.1:p.Ser794ArgfsTer7
XM_011510643.1:c.2381_2382insAAGACAAATTTATT	XP_011508945.1:p.Ser794ArgfsTer7
XM_011510644.1:c.2381_2382insAAGACAAATTTATT	XP_011508946.1:p.Ser794ArgfsTer7
NM_001122633.3:c.2381_2382insAAGACAAATTTATT	NP_001116105.2:p.Ser794ArgfsTer7
NM_001369256.1:c.2414_2415insAAGACAAATTTATT	NP_001356185.1:p.Ser805ArgfsTer7
NM_001369257.1:c.2381_2382insAAGACAAATTTATT	NP_001356186.1:p.Ser794ArgfsTer7
NM_001875.5:c.2381_2382insAAGACAAATTTATT MANE Select	NP_001866.2:p.Ser794ArgfsTer7
NR_161225.1:n.3290_3291insAAGACAAATTTATT
NR_163592.1:n.1537_1538insAAGACAAATTTATT