Canonical Allele Identifier: CA2339041911

Gene: PRKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46704331_46704340delinsCAGAAGAGGA , CM000681.2:g.46704331_46704340delinsCAGAAGAGGA	GRCh38
NC_000019.9:g.47207588_47207597delinsCAGAAGAGGA , CM000681.1:g.47207588_47207597delinsCAGAAGAGGA	GRCh37
NC_000019.8:g.51899428_51899437delinsCAGAAGAGGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291281.9:c.718_727delinsTCCTCTTCTG MANE Select	ENSP00000291281.3:p.Ser240=
ENST00000291281.8:c.718_727delinsTCCTCTTCTG	ENSP00000291281.3:p.Ser240=
ENST00000433867.5:c.718_727delinsTCCTCTTCTG	ENSP00000393978.1:p.Ser240=
ENST00000595515.5:c.718_727delinsTCCTCTTCTG	ENSP00000470804.1:p.Ser240=
ENST00000600194.5:c.247_256delinsTCCTCTTCTG	ENSP00000472744.1:p.Ser83=
ENST00000601605.5:c.41-3228_41-3219delinsTCCTCTTCTG	ENSP00000470442.1:n.41-3228_41-3219delinsTCCTCTTCTG
ENST00000601806.5:c.247_256delinsTCCTCTTCTG	ENSP00000469106.1:p.Ser83=
NM_001079880.1:c.718_727delinsTCCTCTTCTG	NP_001073349.1:p.Ser240=
NM_001079881.1:c.718_727delinsTCCTCTTCTG	NP_001073350.1:p.Ser240=
NM_001079882.1:c.247_256delinsTCCTCTTCTG	NP_001073351.1:p.Ser83=
NM_016457.4:c.718_727delinsTCCTCTTCTG	NP_057541.2:p.Ser240=
XM_005258716.2:c.247_256delinsTCCTCTTCTG	XP_005258773.2:p.Ser83=
NM_001079880.2:c.718_727delinsTCCTCTTCTG	NP_001073349.1:p.Ser240=
NM_001079881.2:c.718_727delinsTCCTCTTCTG	NP_001073350.1:p.Ser240=
NM_001079882.2:c.247_256delinsTCCTCTTCTG	NP_001073351.1:p.Ser83=
NM_016457.5:c.718_727delinsTCCTCTTCTG MANE Select	NP_057541.2:p.Ser240=