Canonical Allele Identifier: CA2585971176

Gene: PRKD2

Linked Data

• gnomAD v4: 19-46704373-G-GTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704375_46704376insTTT , CM000681.2:g.46704375_46704376insTTT	GRCh38
NC_000019.9:g.47207632_47207633insTTT , CM000681.1:g.47207632_47207633insTTT	GRCh37
NC_000019.8:g.51899472_51899473insTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.684_685insAAA MANE Select	ENSP00000291281.3:p.Glu228_Leu229insLys
ENST00000291281.8:c.684_685insAAA	ENSP00000291281.3:p.Glu228_Leu229insLys
ENST00000433867.5:c.684_685insAAA	ENSP00000393978.1:p.Glu228_Leu229insLys
ENST00000595515.5:c.684_685insAAA	ENSP00000470804.1:p.Glu228_Leu229insLys
ENST00000597641.1:c.419_420insAAA	ENSP00000469064.1:n.419_420insAAA
ENST00000600194.5:c.213_214insAAA	ENSP00000472744.1:p.Glu71_Leu72insLys
ENST00000601605.5:c.41-3262_41-3261insAAA	ENSP00000470442.1:n.41-3262_41-3261insAAA
ENST00000601806.5:c.213_214insAAA	ENSP00000469106.1:p.Glu71_Leu72insLys
NM_001079880.1:c.684_685insAAA	NP_001073349.1:p.Glu228_Leu229insLys
NM_001079881.1:c.684_685insAAA	NP_001073350.1:p.Glu228_Leu229insLys
NM_001079882.1:c.213_214insAAA	NP_001073351.1:p.Glu71_Leu72insLys
NM_016457.4:c.684_685insAAA	NP_057541.2:p.Glu228_Leu229insLys
XM_005258716.2:c.213_214insAAA	XP_005258773.2:p.Glu71_Leu72insLys
NM_001079880.2:c.684_685insAAA	NP_001073349.1:p.Glu228_Leu229insLys
NM_001079881.2:c.684_685insAAA	NP_001073350.1:p.Glu228_Leu229insLys
NM_001079882.2:c.213_214insAAA	NP_001073351.1:p.Glu71_Leu72insLys
NM_016457.5:c.684_685insAAA MANE Select	NP_057541.2:p.Glu228_Leu229insLys