Canonical Allele Identifier: CA658796152
Gene: CPS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.210594614_210594617dup , CM000664.2:g.210594614_210594617dup GRCh38
NC_000002.11:g.211459338_211459341dup , CM000664.1:g.211459338_211459341dup GRCh37
NC_000002.10:g.211167583_211167586dup NCBI36
NG_008285.1:g.121930_121933dup , LRG_336:g.121930_121933dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000233072.10:c.1263+8_1263+11dup MANE Select ENSP00000233072.5:n.1263+8_1263+11dup
ENST00000430249.7:c.1281+8_1281+11dup ENSP00000402608.2:n.1281+8_1281+11dup
ENST00000451903.3:c.-91+8_-91+11dup ENSP00000406136.2:n.-91+8_-91+11dup
ENST00000673510.1:c.1263+8_1263+11dup ENSP00000500537.1:n.1263+8_1263+11dup
ENST00000673630.1:c.1263+8_1263+11dup ENSP00000501073.1:n.1263+8_1263+11dup
ENST00000673711.1:c.1263+8_1263+11dup ENSP00000501022.1:n.1263+8_1263+11dup
ENST00000674074.1:n.408+8_408+11dup
ENST00000233072.9:c.1263+8_1263+11dup ENSP00000233072.5:n.1263+8_1263+11dup
ENST00000430249.6:c.1281+8_1281+11dup ENSP00000402608.2:n.1281+8_1281+11dup
ENST00000451903.2:c.-91+8_-91+11dup ENSP00000406136.2:n.-91+8_-91+11dup
ENST00000619804.1:c.1263+8_1263+11dup ENSP00000480517.1:n.1263+8_1263+11dup
NM_001122633.2:c.1281+8_1281+11dup NP_001116105.1:n.1281+8_1281+11dup
NM_001122634.3:c.-91+8_-91+11dup NP_001116106.1:n.-91+8_-91+11dup
NM_001875.4:c.1263+8_1263+11dup , LRG_336t1:c.1263+8_1263+11dup NP_001866.2:n.1263+8_1263+11dup
XM_011510640.1:c.1296+8_1296+11dup XP_011508942.1:n.1296+8_1296+11dup
XM_011510641.1:c.1263+8_1263+11dup XP_011508943.1:n.1263+8_1263+11dup
XM_011510642.1:c.1263+8_1263+11dup XP_011508944.1:n.1263+8_1263+11dup
XM_011510643.1:c.1263+8_1263+11dup XP_011508945.1:n.1263+8_1263+11dup
XM_011510644.1:c.1263+8_1263+11dup XP_011508946.1:n.1263+8_1263+11dup
NM_001122633.3:c.1263+8_1263+11dup NP_001116105.2:n.1263+8_1263+11dup
NM_001369256.1:c.1296+8_1296+11dup NP_001356185.1:n.1296+8_1296+11dup
NM_001369257.1:c.1263+8_1263+11dup NP_001356186.1:n.1263+8_1263+11dup
NM_001875.5:c.1263+8_1263+11dup MANE Select NP_001866.2:n.1263+8_1263+11dup
NR_161225.1:n.2175+8_2175+11dup
NR_163592.1:n.419+8_419+11dup