Canonical Allele Identifier: CA175109
Gene: CPS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210642561_210642563del , CM000664.2:g.210642561_210642563del GRCh38
NC_000002.11:g.211507285_211507287del , CM000664.1:g.211507285_211507287del GRCh37
NC_000002.10:g.211215530_211215532del NCBI36
NG_008285.1:g.169877_169879del , LRG_336:g.169877_169879del

Transcript Alleles

HGVS Amino-acid Change
ENST00000233072.10:c.3037_3039del MANE Select ENSP00000233072.5:p.Val1013del
ENST00000430249.7:c.3055_3057del ENSP00000402608.2:p.Val1019del
ENST00000451903.3:c.1684_1686del ENSP00000406136.2:p.Val562del
ENST00000673510.1:c.3037_3039del ENSP00000500537.1:p.Val1013del
ENST00000673630.1:c.3037_3039del ENSP00000501073.1:p.Val1013del
ENST00000673698.1:c.1517_1519del
ENST00000673711.1:c.3037_3039del ENSP00000501022.1:p.Val1013del
ENST00000674074.1:n.2182_2184del
ENST00000233072.9:c.3037_3039del ENSP00000233072.5:p.Val1013del
ENST00000430249.6:c.3055_3057del ENSP00000402608.2:p.Val1019del
ENST00000451903.2:c.1684_1686del ENSP00000406136.2:p.Val562del
ENST00000497121.1:n.409_411del
NM_001122633.2:c.3055_3057del NP_001116105.1:p.Val1019del
NM_001122634.3:c.1684_1686del NP_001116106.1:p.Val562del
NM_001875.4:c.3037_3039del , LRG_336t1:c.3037_3039del NP_001866.2:p.Val1013del
XM_011510640.1:c.3070_3072del XP_011508942.1:p.Val1024del
XM_011510641.1:c.3037_3039del XP_011508943.1:p.Val1013del
XM_011510642.1:c.3037_3039del XP_011508944.1:p.Val1013del
XM_011510643.1:c.3037_3039del XP_011508945.1:p.Val1013del
XM_011510644.1:c.3037_3039del XP_011508946.1:p.Val1013del
NM_001122633.3:c.3037_3039del NP_001116105.2:p.Val1013del
NM_001369256.1:c.3070_3072del NP_001356185.1:p.Val1024del
NM_001369257.1:c.3037_3039del NP_001356186.1:p.Val1013del
NM_001875.5:c.3037_3039del MANE Select NP_001866.2:p.Val1013del
NR_161225.1:n.3946_3948del
NR_163592.1:n.2193_2195del
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