Canonical Allele Identifier: CA1139662604

Gene: PRICKLE1

Linked Data

• ClinVar Variation Id: 956098
• ClinVar RCV Id: RCV001228841
• dbSNP Id: rs1938228955

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.42469454_42469455insA , CM000674.2:g.42469454_42469455insA	GRCh38
NC_000012.11:g.42863256_42863257insA , CM000674.1:g.42863256_42863257insA	GRCh37
NC_000012.10:g.41149523_41149524insA	NCBI36
NG_012965.1:g.125316_125317insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345127.9:c.379_380insT MANE Select	ENSP00000345064.3:p.Glu127ValfsTer11
ENST00000445766.7:c.379_380insT	ENSP00000398947.2:p.Glu127ValfsTer11
ENST00000455697.6:c.379_380insT	ENSP00000401060.1:p.Glu127ValfsTer11
ENST00000548696.6:c.379_380insT	ENSP00000448359.1:p.Glu127ValfsTer11
ENST00000552108.6:c.379_380insT	ENSP00000447870.2:p.Glu127ValfsTer11
ENST00000552240.6:c.379_380insT	ENSP00000449819.1:p.Glu127ValfsTer11
ENST00000639566.1:c.379_380insT	ENSP00000492332.1:p.Glu127ValfsTer11
ENST00000639589.1:c.379_380insT	ENSP00000491051.1:p.Glu127ValfsTer11
ENST00000639958.1:c.379_380insT	ENSP00000492644.1:p.Glu127ValfsTer11
ENST00000640055.1:c.379_380insT	ENSP00000492763.1:p.Glu127ValfsTer11
ENST00000640132.1:c.379_380insT	ENSP00000491228.1:p.Glu127ValfsTer11
ENST00000640801.1:c.379_380insT	ENSP00000491473.1:p.Glu127ValfsTer?
ENST00000640840.1:n.206_207insT
ENST00000345127.7:c.379_380insT	ENSP00000345064.3:p.Glu127ValfsTer11
ENST00000445766.6:c.379_380insT	ENSP00000398947.2:p.Glu127ValfsTer11
ENST00000455697.5:c.379_380insT	ENSP00000401060.1:p.Glu127ValfsTer11
ENST00000548696.5:c.379_380insT	ENSP00000448359.1:p.Glu127ValfsTer11
ENST00000552108.5:c.379_380insT	ENSP00000447870.1:p.Glu127ValfsTer11
ENST00000552240.5:c.379_380insT	ENSP00000449819.1:p.Glu127ValfsTer11
NM_001144881.1:c.379_380insT	NP_001138353.1:p.Glu127ValfsTer11
NM_001144882.1:c.379_380insT	NP_001138354.1:p.Glu127ValfsTer11
NM_001144883.1:c.379_380insT	NP_001138355.1:p.Glu127ValfsTer11
NM_153026.2:c.379_380insT	NP_694571.2:p.Glu127ValfsTer11
XM_011537946.1:c.379_380insT	XP_011536248.1:p.Glu127ValfsTer11
XM_011537947.1:c.379_380insT	XP_011536249.1:p.Glu127ValfsTer11
XM_011537947.2:c.379_380insT	XP_011536249.1:p.Glu127ValfsTer11
XM_017018838.1:c.379_380insT	XP_016874327.1:p.Glu127ValfsTer11
XM_017018839.1:c.379_380insT	XP_016874328.1:p.Glu127ValfsTer11
XM_017018840.1:c.379_380insT	XP_016874329.1:p.Glu127ValfsTer11
NM_153026.3:c.379_380insT MANE Select	NP_694571.2:p.Glu127ValfsTer11
NM_001144881.2:c.379_380insT	NP_001138353.1:p.Glu127ValfsTer11
NM_001144882.2:c.379_380insT	NP_001138354.1:p.Glu127ValfsTer11
NM_001144883.2:c.379_380insT	NP_001138355.1:p.Glu127ValfsTer11