Canonical Allele Identifier: CA2660868

Gene: CP

Linked Data

• ClinVar Variation Id: 2061890
• ClinVar RCV Id: RCV002939158
• dbSNP Id: rs759315393
• ExAC: 3:148904420 ACATCGG / A
• gnomAD v2: 3-148904420-ACATCGG-A
• gnomAD v4: 3-149186633-ACATCGG-A
• MyVariant Identifiers: chr3:g.148904421_148904426del (hg19) ; chr3:g.149186635_149186640del (hg38) ; chr3:g.149186634_149186639del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149186635_149186640del , CM000665.2:g.149186635_149186640del	GRCh38
NC_000003.11:g.148904422_148904427del , CM000665.1:g.148904422_148904427del	GRCh37
NC_000003.10:g.150387112_150387117del	NCBI36
NG_011800.1:g.40407_40412del
NG_011800.2:g.40407_40412del
NG_011800.3:g.40407_40412del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264613.11:c.1958_1963del MANE Select	ENSP00000264613.6:p.Ala653_Asp654del
ENST00000264613.10:c.1958_1963del	ENSP00000264613.6:p.Ala653_Asp654del
ENST00000462336.5:n.332_337del
ENST00000481169.5:c.1865-1193_1865-1188del	ENSP00000418773.1:n.1865-1193_1865-1188del
ENST00000489736.5:n.1183_1188del
ENST00000490639.5:n.1990_1995del
ENST00000494544.1:c.1307_1312del	ENSP00000420545.1:p.Ala436_Asp437del
ENST00000497902.5:n.139_144del
NM_000096.3:c.1958_1963del	NP_000087.1:p.Ala653_Asp654del
NR_046371.1:n.2118-1193_2118-1188del
XM_006713499.2:c.1958_1963del	XP_006713562.1:p.Ala653_Asp654del
XM_006713500.2:c.1958_1963del	XP_006713563.1:p.Ala653_Asp654del
XM_006713501.2:c.1958_1963del	XP_006713564.1:p.Ala653_Asp654del
XM_006713502.2:c.1958_1963del	XP_006713565.1:p.Ala653_Asp654del
XM_011512435.1:c.1958_1963del	XP_011510737.1:p.Ala653_Asp654del
XR_427361.2:n.2216_2221del
XM_006713499.3:c.1958_1963del	XP_006713562.1:p.Ala653_Asp654del
XM_006713500.4:c.1958_1963del	XP_006713563.1:p.Ala653_Asp654del
XM_006713501.3:c.1958_1963del	XP_006713564.1:p.Ala653_Asp654del
XM_011512435.2:c.1958_1963del	XP_011510737.1:p.Ala653_Asp654del
XM_017005734.2:c.1958_1963del	XP_016861223.1:p.Ala653_Asp654del
XM_017005735.2:c.1958_1963del	XP_016861224.1:p.Ala653_Asp654del
XR_427361.3:n.2174_2179del
NM_000096.4:c.1958_1963del MANE Select	NP_000087.2:p.Ala653_Asp654del
NR_046371.2:n.1902-1193_1902-1188del