Canonical Allele Identifier: CA2585971207

Gene: PRKD2

Linked Data

• gnomAD v4: 19-46704586-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704589del , CM000681.2:g.46704589del	GRCh38
NC_000019.9:g.47207846del , CM000681.1:g.47207846del	GRCh37
NC_000019.8:g.51899686del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.574del MANE Select	ENSP00000291281.3:p.Arg192AlafsTer?
ENST00000291281.8:c.574del	ENSP00000291281.3:p.Arg192AlafsTer?
ENST00000433867.5:c.574del	ENSP00000393978.1:p.Arg192AlafsTer?
ENST00000595132.5:c.103del	ENSP00000470363.1:p.Arg35AlafsTer?
ENST00000595515.5:c.574del	ENSP00000470804.1:p.Arg192AlafsTer?
ENST00000597641.1:c.309del	ENSP00000469064.1:n.309del
ENST00000600194.5:c.103del	ENSP00000472744.1:p.Arg35AlafsTer?
ENST00000601605.5:c.41-3475del	ENSP00000470442.1:n.41-3475del
ENST00000601806.5:c.103del	ENSP00000469106.1:p.Arg35AlafsTer?
NM_001079880.1:c.574del	NP_001073349.1:p.Arg192AlafsTer?
NM_001079881.1:c.574del	NP_001073350.1:p.Arg192AlafsTer?
NM_001079882.1:c.103del	NP_001073351.1:p.Arg35AlafsTer?
NM_016457.4:c.574del	NP_057541.2:p.Arg192AlafsTer?
XM_005258716.2:c.103del	XP_005258773.2:p.Arg35AlafsTer?
NM_001079880.2:c.574del	NP_001073349.1:p.Arg192AlafsTer?
NM_001079881.2:c.574del	NP_001073350.1:p.Arg192AlafsTer?
NM_001079882.2:c.103del	NP_001073351.1:p.Arg35AlafsTer?
NM_016457.5:c.574del MANE Select	NP_057541.2:p.Arg192AlafsTer?