Canonical Allele Identifier: CA2660870

Gene: CP

Linked Data

• dbSNP Id: rs767304704
• ExAC: 3:148904422 ATCGGCC / A
• gnomAD v2: 3-148904422-ATCGGCC-A
• gnomAD v3: 3-149186635-ATCGGCC-A
• gnomAD v4: 3-149186635-ATCGGCC-A
• MyVariant Identifiers: chr3:g.148904423_148904428del (hg19) ; chr3:g.149186636_149186641del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149186638_149186643del , CM000665.2:g.149186638_149186643del	GRCh38
NC_000003.11:g.148904425_148904430del , CM000665.1:g.148904425_148904430del	GRCh37
NC_000003.10:g.150387115_150387120del	NCBI36
NG_011800.1:g.40405_40410del
NG_011800.2:g.40405_40410del
NG_011800.3:g.40405_40410del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264613.11:c.1956_1961del MANE Select	ENSP00000264613.6:p.Glu652_Ala653del
ENST00000264613.10:c.1956_1961del	ENSP00000264613.6:p.Glu652_Ala653del
ENST00000462336.5:n.330_335del
ENST00000481169.5:c.1865-1195_1865-1190del	ENSP00000418773.1:n.1865-1195_1865-1190del
ENST00000489736.5:n.1181_1186del
ENST00000490639.5:n.1988_1993del
ENST00000494544.1:c.1305_1310del	ENSP00000420545.1:p.Glu435_Ala436del
ENST00000497902.5:n.137_142del
NM_000096.3:c.1956_1961del	NP_000087.1:p.Glu652_Ala653del
NR_046371.1:n.2118-1195_2118-1190del
XM_006713499.2:c.1956_1961del	XP_006713562.1:p.Glu652_Ala653del
XM_006713500.2:c.1956_1961del	XP_006713563.1:p.Glu652_Ala653del
XM_006713501.2:c.1956_1961del	XP_006713564.1:p.Glu652_Ala653del
XM_006713502.2:c.1956_1961del	XP_006713565.1:p.Glu652_Ala653del
XM_011512435.1:c.1956_1961del	XP_011510737.1:p.Glu652_Ala653del
XR_427361.2:n.2214_2219del
XM_006713499.3:c.1956_1961del	XP_006713562.1:p.Glu652_Ala653del
XM_006713500.4:c.1956_1961del	XP_006713563.1:p.Glu652_Ala653del
XM_006713501.3:c.1956_1961del	XP_006713564.1:p.Glu652_Ala653del
XM_011512435.2:c.1956_1961del	XP_011510737.1:p.Glu652_Ala653del
XM_017005734.2:c.1956_1961del	XP_016861223.1:p.Glu652_Ala653del
XM_017005735.2:c.1956_1961del	XP_016861224.1:p.Glu652_Ala653del
XR_427361.3:n.2172_2177del
NM_000096.4:c.1956_1961del MANE Select	NP_000087.2:p.Glu652_Ala653del
NR_046371.2:n.1902-1195_1902-1190del