Canonical Allele Identifier: CA1325076647

Gene: CPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210600537_210600542delinsTATTTG , CM000664.2:g.210600537_210600542delinsTATTTG	GRCh38
NC_000002.11:g.211465261_211465266delinsTATTTG , CM000664.1:g.211465261_211465266delinsTATTTG	GRCh37
NC_000002.10:g.211173506_211173511delinsTATTTG	NCBI36
NG_008285.1:g.127853_127858delinsTATTTG , LRG_336:g.127853_127858delinsTATTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.1550-18_1550-13delinsTATTTG MANE Select	ENSP00000233072.5:n.1550-18_1550-13delinsTATTTG
ENST00000430249.7:c.1568-18_1568-13delinsTATTTG	ENSP00000402608.2:n.1568-18_1568-13delinsTATTTG
ENST00000451903.3:c.197-18_197-13delinsTATTTG	ENSP00000406136.2:n.197-18_197-13delinsTATTTG
ENST00000673510.1:c.1550-18_1550-13delinsTATTTG	ENSP00000500537.1:n.1550-18_1550-13delinsTATTTG
ENST00000673630.1:c.1550-18_1550-13delinsTATTTG	ENSP00000501073.1:n.1550-18_1550-13delinsTATTTG
ENST00000673698.1:c.30-18_30-13delinsTATTTG
ENST00000673711.1:c.1550-18_1550-13delinsTATTTG	ENSP00000501022.1:n.1550-18_1550-13delinsTATTTG
ENST00000674074.1:n.695-18_695-13delinsTATTTG
ENST00000233072.9:c.1550-18_1550-13delinsTATTTG	ENSP00000233072.5:n.1550-18_1550-13delinsTATTTG
ENST00000430249.6:c.1568-18_1568-13delinsTATTTG	ENSP00000402608.2:n.1568-18_1568-13delinsTATTTG
ENST00000451903.2:c.197-18_197-13delinsTATTTG	ENSP00000406136.2:n.197-18_197-13delinsTATTTG
NM_001122633.2:c.1568-18_1568-13delinsTATTTG	NP_001116105.1:n.1568-18_1568-13delinsTATTTG
NM_001122634.3:c.197-18_197-13delinsTATTTG	NP_001116106.1:n.197-18_197-13delinsTATTTG
NM_001875.4:c.1550-18_1550-13delinsTATTTG , LRG_336t1:c.1550-18_1550-13delinsTATTTG	NP_001866.2:n.1550-18_1550-13delinsTATTTG
XM_011510640.1:c.1583-18_1583-13delinsTATTTG	XP_011508942.1:n.1583-18_1583-13delinsTATTTG
XM_011510641.1:c.1550-18_1550-13delinsTATTTG	XP_011508943.1:n.1550-18_1550-13delinsTATTTG
XM_011510642.1:c.1550-18_1550-13delinsTATTTG	XP_011508944.1:n.1550-18_1550-13delinsTATTTG
XM_011510643.1:c.1550-18_1550-13delinsTATTTG	XP_011508945.1:n.1550-18_1550-13delinsTATTTG
XM_011510644.1:c.1550-18_1550-13delinsTATTTG	XP_011508946.1:n.1550-18_1550-13delinsTATTTG
NM_001122633.3:c.1550-18_1550-13delinsTATTTG	NP_001116105.2:n.1550-18_1550-13delinsTATTTG
NM_001369256.1:c.1583-18_1583-13delinsTATTTG	NP_001356185.1:n.1583-18_1583-13delinsTATTTG
NM_001369257.1:c.1550-18_1550-13delinsTATTTG	NP_001356186.1:n.1550-18_1550-13delinsTATTTG
NM_001875.5:c.1550-18_1550-13delinsTATTTG MANE Select	NP_001866.2:n.1550-18_1550-13delinsTATTTG
NR_161225.1:n.2459-18_2459-13delinsTATTTG
NR_163592.1:n.706-18_706-13delinsTATTTG