Canonical Allele Identifier: CA2662934003

Gene: CPS1

Linked Data

• gnomAD v4: 2-210592930-GTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210592931_210592933del , CM000664.2:g.210592931_210592933del	GRCh38
NC_000002.11:g.211457655_211457657del , CM000664.1:g.211457655_211457657del	GRCh37
NC_000002.10:g.211165900_211165902del	NCBI36
NG_008285.1:g.120247_120249del , LRG_336:g.120247_120249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.1139_1141del MANE Select	ENSP00000233072.5:p.Val380_Thr381delinsAla
ENST00000430249.7:c.1157_1159del	ENSP00000402608.2:p.Val386_Thr387delinsAla
ENST00000673510.1:c.1139_1141del	ENSP00000500537.1:p.Val380_Thr381delinsAla
ENST00000673630.1:c.1139_1141del	ENSP00000501073.1:p.Val380_Thr381delinsAla
ENST00000673711.1:c.1139_1141del	ENSP00000501022.1:p.Val380_Thr381delinsAla
ENST00000233072.9:c.1139_1141del	ENSP00000233072.5:p.Val380_Thr381delinsAla
ENST00000430249.6:c.1157_1159del	ENSP00000402608.2:p.Val386_Thr387delinsAla
ENST00000619804.1:c.1139_1141del	ENSP00000480517.1:p.Val380_Thr381delinsAla
NM_001122633.2:c.1157_1159del	NP_001116105.1:p.Val386_Thr387delinsAla
NM_001875.4:c.1139_1141del , LRG_336t1:c.1139_1141del	NP_001866.2:p.Val380_Thr381delinsAla
XM_011510640.1:c.1172_1174del	XP_011508942.1:p.Val391_Thr392delinsAla
XM_011510641.1:c.1139_1141del	XP_011508943.1:p.Val380_Thr381delinsAla
XM_011510642.1:c.1139_1141del	XP_011508944.1:p.Val380_Thr381delinsAla
XM_011510643.1:c.1139_1141del	XP_011508945.1:p.Val380_Thr381delinsAla
XM_011510644.1:c.1139_1141del	XP_011508946.1:p.Val380_Thr381delinsAla
NM_001122633.3:c.1139_1141del	NP_001116105.2:p.Val380_Thr381delinsAla
NM_001369256.1:c.1172_1174del	NP_001356185.1:p.Val391_Thr392delinsAla
NM_001369257.1:c.1139_1141del	NP_001356186.1:p.Val380_Thr381delinsAla
NM_001875.5:c.1139_1141del MANE Select	NP_001866.2:p.Val380_Thr381delinsAla
NR_161225.1:n.2051_2053del