Canonical Allele Identifier: CA658683371

Gene: CP

Linked Data

• ClinVar Variation Id: 488148
• ClinVar RCV Id: RCV000584751
• dbSNP Id: rs1553759338
• MyVariant Identifiers: chr3:g.148903956_148904811del (hg19) ; chr3:g.149186169_149187024del (hg38)
• PubMed: PMID:26777753

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149186169_149187024del , CM000665.2:g.149186169_149187024del	GRCh38
NC_000003.11:g.148903956_148904811del , CM000665.1:g.148903956_148904811del	GRCh37
NC_000003.10:g.150386646_150387501del	NCBI36
NG_011800.1:g.40023_40878del
NG_011800.2:g.40023_40878del
NG_011800.3:g.40023_40878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264613.11:c.1865-291_2077+352del
ENST00000264613.10:c.1865-291_2077+352del
ENST00000462336.5:n.239-291_451+352del
ENST00000481169.5:c.1864+1029_1865-722del	ENSP00000418773.1:n.1864+1029_1865-722del
ENST00000489736.5:n.1090-291_1654del
ENST00000490639.5:n.1897-291_2109+352del
ENST00000494544.1:c.1214-291_1426+352del
ENST00000497902.5:n.46-291_258+352del
NM_000096.3:c.1865-291_2077+352del
NR_046371.1:n.2117+1029_2118-722del
XM_006713499.2:c.1865-291_2077+352del
XM_006713500.2:c.1865-291_2077+352del
XM_006713501.2:c.1865-291_2077+352del
XM_006713502.2:c.1865-291_2077+352del
XM_011512435.1:c.1865-291_2077+352del
XR_427361.2:n.2123-291_2335+352del
XM_006713499.3:c.1865-291_2077+352del
XM_006713500.4:c.1865-291_2077+352del
XM_006713501.3:c.1865-291_2077+352del
XM_011512435.2:c.1865-291_2077+352del
XM_017005734.2:c.1865-291_2077+352del
XM_017005735.2:c.1865-291_2077+352del
XR_427361.3:n.2081-291_2293+352del
NM_000096.4:c.1865-291_2077+352del
NR_046371.2:n.1901+1029_1902-722del