Canonical Allele Identifier: CA2662934063

Gene: CPS1

Linked Data

• gnomAD v4: 2-210592989-CAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210592997_210592999del , CM000664.2:g.210592997_210592999del	GRCh38
NC_000002.11:g.211457721_211457723del , CM000664.1:g.211457721_211457723del	GRCh37
NC_000002.10:g.211165966_211165968del	NCBI36
NG_008285.1:g.120313_120315del , LRG_336:g.120313_120315del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.1164+41_1164+43del MANE Select	ENSP00000233072.5:n.1164+41_1164+43del
ENST00000430249.7:c.1182+41_1182+43del	ENSP00000402608.2:n.1182+41_1182+43del
ENST00000673510.1:c.1164+41_1164+43del	ENSP00000500537.1:n.1164+41_1164+43del
ENST00000673630.1:c.1164+41_1164+43del	ENSP00000501073.1:n.1164+41_1164+43del
ENST00000673711.1:c.1164+41_1164+43del	ENSP00000501022.1:n.1164+41_1164+43del
ENST00000233072.9:c.1164+41_1164+43del	ENSP00000233072.5:n.1164+41_1164+43del
ENST00000430249.6:c.1182+41_1182+43del	ENSP00000402608.2:n.1182+41_1182+43del
ENST00000619804.1:c.1164+41_1164+43del	ENSP00000480517.1:n.1164+41_1164+43del
NM_001122633.2:c.1182+41_1182+43del	NP_001116105.1:n.1182+41_1182+43del
NM_001875.4:c.1164+41_1164+43del , LRG_336t1:c.1164+41_1164+43del	NP_001866.2:n.1164+41_1164+43del
XM_011510640.1:c.1197+41_1197+43del	XP_011508942.1:n.1197+41_1197+43del
XM_011510641.1:c.1164+41_1164+43del	XP_011508943.1:n.1164+41_1164+43del
XM_011510642.1:c.1164+41_1164+43del	XP_011508944.1:n.1164+41_1164+43del
XM_011510643.1:c.1164+41_1164+43del	XP_011508945.1:n.1164+41_1164+43del
XM_011510644.1:c.1164+41_1164+43del	XP_011508946.1:n.1164+41_1164+43del
NM_001122633.3:c.1164+41_1164+43del	NP_001116105.2:n.1164+41_1164+43del
NM_001369256.1:c.1197+41_1197+43del	NP_001356185.1:n.1197+41_1197+43del
NM_001369257.1:c.1164+41_1164+43del	NP_001356186.1:n.1164+41_1164+43del
NM_001875.5:c.1164+41_1164+43del MANE Select	NP_001866.2:n.1164+41_1164+43del
NR_161225.1:n.2076+41_2076+43del