Canonical Allele Identifier: CA539125215

Gene: CPS1

Linked Data

• dbSNP Id: rs1472567019
• gnomAD v2: 2-211456484-TA-T
• gnomAD v3: 2-210591760-TA-T
• gnomAD v4: 2-210591760-TA-T
• MyVariant Identifiers: chr2:g.211456485del (hg19) ; chr2:g.210591761del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210591761del , CM000664.2:g.210591761del	GRCh38
NC_000002.11:g.211456485del , CM000664.1:g.211456485del	GRCh37
NC_000002.10:g.211164730del	NCBI36
NG_008285.1:g.119077del , LRG_336:g.119077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.948-70del MANE Select	ENSP00000233072.5:n.948-70del
ENST00000430249.7:c.966-70del	ENSP00000402608.2:n.966-70del
ENST00000673510.1:c.948-70del	ENSP00000500537.1:n.948-70del
ENST00000673630.1:c.948-70del	ENSP00000501073.1:n.948-70del
ENST00000673711.1:c.948-70del	ENSP00000501022.1:n.948-70del
ENST00000233072.9:c.948-70del	ENSP00000233072.5:n.948-70del
ENST00000430249.6:c.966-70del	ENSP00000402608.2:n.966-70del
ENST00000619804.1:c.948-70del	ENSP00000480517.1:n.948-70del
NM_001122633.2:c.966-70del	NP_001116105.1:n.966-70del
NM_001875.4:c.948-70del , LRG_336t1:c.948-70del	NP_001866.2:n.948-70del
XM_011510640.1:c.981-70del	XP_011508942.1:n.981-70del
XM_011510641.1:c.948-70del	XP_011508943.1:n.948-70del
XM_011510642.1:c.948-70del	XP_011508944.1:n.948-70del
XM_011510643.1:c.948-70del	XP_011508945.1:n.948-70del
XM_011510644.1:c.948-70del	XP_011508946.1:n.948-70del
NM_001122633.3:c.948-70del	NP_001116105.2:n.948-70del
NM_001369256.1:c.981-70del	NP_001356185.1:n.981-70del
NM_001369257.1:c.948-70del	NP_001356186.1:n.948-70del
NM_001875.5:c.948-70del MANE Select	NP_001866.2:n.948-70del
NR_161225.1:n.1860-70del