Canonical Allele Identifier: CA764158913

Gene: CPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210577411_210577414del , CM000664.2:g.210577411_210577414del	GRCh38
NC_000002.11:g.211442135_211442138del , CM000664.1:g.211442135_211442138del	GRCh37
NC_000002.10:g.211150380_211150383del	NCBI36
NG_008285.1:g.104727_104730del , LRG_336:g.104727_104730del

Transcript Alleles

HGVS	Amino-acid Change
NM_001875.5:c.382-10_382-7del MANE Select	NP_001866.2:n.382-10_382-7del
ENST00000233072.10:c.382-10_382-7del MANE Select	ENSP00000233072.5:n.382-10_382-7del
NM_001122633.2:c.400-10_400-7del	NP_001116105.1:n.400-10_400-7del
NM_001122633.3:c.382-10_382-7del	NP_001116105.2:n.382-10_382-7del
NM_001369256.1:c.415-10_415-7del	NP_001356185.1:n.415-10_415-7del
NM_001369257.1:c.382-10_382-7del	NP_001356186.1:n.382-10_382-7del
NM_001875.4:c.382-10_382-7del , LRG_336t1:c.382-10_382-7del	NP_001866.2:n.382-10_382-7del
NR_161225.1:n.1294-10_1294-7del
ENST00000233072.9:c.382-10_382-7del	ENSP00000233072.5:n.382-10_382-7del
ENST00000430249.6:c.400-10_400-7del	ENSP00000402608.2:n.400-10_400-7del
ENST00000430249.7:c.400-10_400-7del	ENSP00000402608.2:n.400-10_400-7del
ENST00000497163.1:n.257_260del
ENST00000523702.5:c.400-10_400-7del	ENSP00000430644.1:n.400-10_400-7del
ENST00000619804.1:c.382-10_382-7del	ENSP00000480517.1:n.382-10_382-7del
ENST00000673510.1:c.382-10_382-7del	ENSP00000500537.1:n.382-10_382-7del
ENST00000673630.1:c.382-10_382-7del	ENSP00000501073.1:n.382-10_382-7del
ENST00000673711.1:c.382-10_382-7del	ENSP00000501022.1:n.382-10_382-7del
XM_011510640.1:c.415-10_415-7del	XP_011508942.1:n.415-10_415-7del
XM_011510641.1:c.382-10_382-7del	XP_011508943.1:n.382-10_382-7del
XM_011510642.1:c.382-10_382-7del	XP_011508944.1:n.382-10_382-7del
XM_011510643.1:c.382-10_382-7del	XP_011508945.1:n.382-10_382-7del
XM_011510644.1:c.382-10_382-7del	XP_011508946.1:n.382-10_382-7del