Canonical Allele Identifier: CA539127130

Gene: CPS1

Linked Data

• dbSNP Id: rs1231431988
• gnomAD v2: 2-211473097-ATTCATTGCTGCAAAGATTGCCCTAGGAATCCCACT-A
• gnomAD v3: 2-210608373-ATTCATTGCTGCAAAGATTGCCCTAGGAATCCCACT-A
• gnomAD v4: 2-210608373-ATTCATTGCTGCAAAGATTGCCCTAGGAATCCCACT-A
• MyVariant Identifiers: chr2:g.211473098_211473132del (hg19) ; chr2:g.210608374_210608408del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608375_210608409del , CM000664.2:g.210608375_210608409del	GRCh38
NC_000002.11:g.211473099_211473133del , CM000664.1:g.211473099_211473133del	GRCh37
NC_000002.10:g.211181344_211181378del	NCBI36
NG_008285.1:g.135691_135725del , LRG_336:g.135691_135725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2207_2241del MANE Select	ENSP00000233072.5:p.Phe736SerfsTer4
ENST00000430249.7:c.2225_2259del	ENSP00000402608.2:p.Phe742SerfsTer4
ENST00000451903.3:c.854_888del	ENSP00000406136.2:p.Phe285SerfsTer4
ENST00000673510.1:c.2207_2241del	ENSP00000500537.1:p.Phe736SerfsTer4
ENST00000673630.1:c.2207_2241del	ENSP00000501073.1:p.Phe736SerfsTer4
ENST00000673698.1:c.687_721del
ENST00000673711.1:c.2207_2241del	ENSP00000501022.1:p.Phe736SerfsTer4
ENST00000674074.1:n.1352_1386del
ENST00000233072.9:c.2207_2241del	ENSP00000233072.5:p.Phe736SerfsTer4
ENST00000430249.6:c.2225_2259del	ENSP00000402608.2:p.Phe742SerfsTer4
ENST00000451903.2:c.854_888del	ENSP00000406136.2:p.Phe285SerfsTer4
NM_001122633.2:c.2225_2259del	NP_001116105.1:p.Phe742SerfsTer4
NM_001122634.3:c.854_888del	NP_001116106.1:p.Phe285SerfsTer4
NM_001875.4:c.2207_2241del , LRG_336t1:c.2207_2241del	NP_001866.2:p.Phe736SerfsTer4
XM_011510640.1:c.2240_2274del	XP_011508942.1:p.Phe747SerfsTer4
XM_011510641.1:c.2207_2241del	XP_011508943.1:p.Phe736SerfsTer4
XM_011510642.1:c.2207_2241del	XP_011508944.1:p.Phe736SerfsTer4
XM_011510643.1:c.2207_2241del	XP_011508945.1:p.Phe736SerfsTer4
XM_011510644.1:c.2207_2241del	XP_011508946.1:p.Phe736SerfsTer4
NM_001122633.3:c.2207_2241del	NP_001116105.2:p.Phe736SerfsTer4
NM_001369256.1:c.2240_2274del	NP_001356185.1:p.Phe747SerfsTer4
NM_001369257.1:c.2207_2241del	NP_001356186.1:p.Phe736SerfsTer4
NM_001875.5:c.2207_2241del MANE Select	NP_001866.2:p.Phe736SerfsTer4
NR_161225.1:n.3116_3150del
NR_163592.1:n.1363_1397del