Canonical Allele Identifier: CA2585971204

Gene: PRKD2

Linked Data

• gnomAD v4: 19-46704518-GGGACTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704522_46704527del , CM000681.2:g.46704522_46704527del	GRCh38
NC_000019.9:g.47207779_47207784del , CM000681.1:g.47207779_47207784del	GRCh37
NC_000019.8:g.51899619_51899624del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.637_642del MANE Select	ENSP00000291281.3:p.Glu213_Ser214del
ENST00000291281.8:c.637_642del	ENSP00000291281.3:p.Glu213_Ser214del
ENST00000433867.5:c.637_642del	ENSP00000393978.1:p.Glu213_Ser214del
ENST00000595132.5:c.166_171del	ENSP00000470363.1:p.Glu56_Ser57del
ENST00000595515.5:c.637_642del	ENSP00000470804.1:p.Glu213_Ser214del
ENST00000597641.1:c.372_377del	ENSP00000469064.1:n.372_377del
ENST00000600194.5:c.166_171del	ENSP00000472744.1:p.Glu56_Ser57del
ENST00000601605.5:c.41-3412_41-3407del	ENSP00000470442.1:n.41-3412_41-3407del
ENST00000601806.5:c.166_171del	ENSP00000469106.1:p.Glu56_Ser57del
NM_001079880.1:c.637_642del	NP_001073349.1:p.Glu213_Ser214del
NM_001079881.1:c.637_642del	NP_001073350.1:p.Glu213_Ser214del
NM_001079882.1:c.166_171del	NP_001073351.1:p.Glu56_Ser57del
NM_016457.4:c.637_642del	NP_057541.2:p.Glu213_Ser214del
XM_005258716.2:c.166_171del	XP_005258773.2:p.Glu56_Ser57del
NM_001079880.2:c.637_642del	NP_001073349.1:p.Glu213_Ser214del
NM_001079881.2:c.637_642del	NP_001073350.1:p.Glu213_Ser214del
NM_001079882.2:c.166_171del	NP_001073351.1:p.Glu56_Ser57del
NM_016457.5:c.637_642del MANE Select	NP_057541.2:p.Glu213_Ser214del