Canonical Allele Identifier: CA2624426593

Gene: PRKD1

Linked Data

• gnomAD v4: 14-29626519-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626520_29626521del , CM000676.2:g.29626520_29626521del	GRCh38
NC_000014.8:g.30095726_30095727del , CM000676.1:g.30095726_30095727del	GRCh37
NC_000014.7:g.29165477_29165478del	NCBI36
NG_052879.1:g.306173_306174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1532_1533del
ENST00000691517.1:n.1045_1046del
ENST00000331968.11:c.1761_1762del MANE Select	ENSP00000333568.6:p.Glu587AspfsTer17
ENST00000651571.1:c.1573_1574del	ENSP00000498919.1:n.1573_1574del
ENST00000651616.1:c.1642_1643del	ENSP00000498661.1:n.1642_1643del
ENST00000331968.9:c.1761_1762del	ENSP00000333568.5:p.Glu587AspfsTer17
ENST00000415220.6:c.1785_1786del	ENSP00000390535.2:p.Glu595AspfsTer17
ENST00000616995.4:c.1761_1762del	ENSP00000482645.1:p.Glu587AspfsTer17
NM_002742.2:c.1761_1762del	NP_002733.2:p.Glu587AspfsTer17
XM_005267859.1:c.1785_1786del	XP_005267916.1:p.Glu595AspfsTer17
XM_011536964.1:c.1557_1558del	XP_011535266.1:p.Glu519AspfsTer17
XM_011536965.1:c.1497_1498del	XP_011535267.1:p.Glu499AspfsTer17
XR_943493.1:n.1900_1901del
NM_001330069.1:c.1785_1786del	NP_001316998.1:p.Glu595AspfsTer17
NM_001348390.1:c.1497_1498del	NP_001335319.1:p.Glu499AspfsTer17
XM_011536965.2:c.1497_1498del	XP_011535267.1:p.Glu499AspfsTer17
XM_017021462.1:c.1266_1267del	XP_016876951.1:p.Glu422AspfsTer17
XR_943493.2:n.2078_2079del
NM_001330069.2:c.1785_1786del	NP_001316998.1:p.Glu595AspfsTer17
NM_002742.3:c.1761_1762del MANE Select	NP_002733.2:p.Glu587AspfsTer17