Canonical Allele Identifier: CA1325073433

Gene: CPS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210593099_210593100delinsTA , CM000664.2:g.210593099_210593100delinsTA	GRCh38
NC_000002.11:g.211457823_211457824delinsTA , CM000664.1:g.211457823_211457824delinsTA	GRCh37
NC_000002.10:g.211166068_211166069delinsTA	NCBI36
NG_008285.1:g.120415_120416delinsTA , LRG_336:g.120415_120416delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.1164+143_1164+144delinsTA MANE Select	ENSP00000233072.5:n.1164+143_1164+144delinsTA
ENST00000430249.7:c.1182+143_1182+144delinsTA	ENSP00000402608.2:n.1182+143_1182+144delinsTA
ENST00000673510.1:c.1164+143_1164+144delinsTA	ENSP00000500537.1:n.1164+143_1164+144delinsTA
ENST00000673630.1:c.1164+143_1164+144delinsTA	ENSP00000501073.1:n.1164+143_1164+144delinsTA
ENST00000673711.1:c.1164+143_1164+144delinsTA	ENSP00000501022.1:n.1164+143_1164+144delinsTA
ENST00000233072.9:c.1164+143_1164+144delinsTA	ENSP00000233072.5:n.1164+143_1164+144delinsTA
ENST00000430249.6:c.1182+143_1182+144delinsTA	ENSP00000402608.2:n.1182+143_1182+144delinsTA
ENST00000619804.1:c.1164+143_1164+144delinsTA	ENSP00000480517.1:n.1164+143_1164+144delinsTA
NM_001122633.2:c.1182+143_1182+144delinsTA	NP_001116105.1:n.1182+143_1182+144delinsTA
NM_001875.4:c.1164+143_1164+144delinsTA , LRG_336t1:c.1164+143_1164+144delinsTA	NP_001866.2:n.1164+143_1164+144delinsTA
XM_011510640.1:c.1197+143_1197+144delinsTA	XP_011508942.1:n.1197+143_1197+144delinsTA
XM_011510641.1:c.1164+143_1164+144delinsTA	XP_011508943.1:n.1164+143_1164+144delinsTA
XM_011510642.1:c.1164+143_1164+144delinsTA	XP_011508944.1:n.1164+143_1164+144delinsTA
XM_011510643.1:c.1164+143_1164+144delinsTA	XP_011508945.1:n.1164+143_1164+144delinsTA
XM_011510644.1:c.1164+143_1164+144delinsTA	XP_011508946.1:n.1164+143_1164+144delinsTA
NM_001122633.3:c.1164+143_1164+144delinsTA	NP_001116105.2:n.1164+143_1164+144delinsTA
NM_001369256.1:c.1197+143_1197+144delinsTA	NP_001356185.1:n.1197+143_1197+144delinsTA
NM_001369257.1:c.1164+143_1164+144delinsTA	NP_001356186.1:n.1164+143_1164+144delinsTA
NM_001875.5:c.1164+143_1164+144delinsTA MANE Select	NP_001866.2:n.1164+143_1164+144delinsTA
NR_161225.1:n.2076+143_2076+144delinsTA