Canonical Allele Identifier: CA344602
Gene: CP HGNC NCBI

Linked Data

ClinVar Variation Id: 42144
ClinVar RCV Id: RCV000034971
dbSNP Id: rs386134148
MyVariant Identifiers: chr3:g.148904316del (hg19) chr3:g.149186529del (hg38)
PubMed: PMID:20301666
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149186529del , CM000665.2:g.149186529del GRCh38
NC_000003.11:g.148904316del , CM000665.1:g.148904316del GRCh37
NC_000003.10:g.150387006del NCBI36
NG_011800.1:g.40517del
NG_011800.2:g.40517del
NG_011800.3:g.40517del

Transcript Alleles

HGVS Amino-acid change
ENST00000264613.11:c.2068del MANE Select ENSP00000264613.6:p.Asp690ThrfsTer20
ENST00000264613.10:c.2068del ENSP00000264613.6:p.Asp690ThrfsTer20
ENST00000462336.5:n.442del
ENST00000481169.5:c.1865-1083del ENSP00000418773.1:n.1865-1083del
ENST00000489736.5:n.1293del
ENST00000490639.5:n.2100del
ENST00000494544.1:c.1417del ENSP00000420545.1:p.Asp473ThrfsTer20
ENST00000497902.5:n.249del
NM_000096.3:c.2068del NP_000087.1:p.Asp690ThrfsTer20
NR_046371.1:n.2118-1083del
XM_006713499.2:c.2068del XP_006713562.1:p.Asp690ThrfsTer20
XM_006713500.2:c.2068del XP_006713563.1:p.Asp690ThrfsTer20
XM_006713501.2:c.2068del XP_006713564.1:p.Asp690ThrfsTer20
XM_006713502.2:c.2068del XP_006713565.1:p.Asp690ThrfsTer20
XM_011512435.1:c.2068del XP_011510737.1:p.Asp690ThrfsTer20
XR_427361.2:n.2326del
XM_006713499.3:c.2068del XP_006713562.1:p.Asp690ThrfsTer20
XM_006713500.4:c.2068del XP_006713563.1:p.Asp690ThrfsTer20
XM_006713501.3:c.2068del XP_006713564.1:p.Asp690ThrfsTer20
XM_011512435.2:c.2068del XP_011510737.1:p.Asp690ThrfsTer20
XM_017005734.2:c.2068del XP_016861223.1:p.Asp690ThrfsTer20
XM_017005735.2:c.2068del XP_016861224.1:p.Asp690ThrfsTer20
XR_427361.3:n.2284del
NM_000096.4:c.2068del MANE Select NP_000087.2:p.Asp690ThrfsTer20
NR_046371.2:n.1902-1083del
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