Canonical Allele Identifier: CA2624426594

Gene: PRKD1

Linked Data

• gnomAD v4: 14-29626529-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626534dup , CM000676.2:g.29626534dup	GRCh38
NC_000014.8:g.30095740dup , CM000676.1:g.30095740dup	GRCh37
NC_000014.7:g.29165491dup	NCBI36
NG_052879.1:g.306164dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1523dup
ENST00000691517.1:n.1036dup
ENST00000331968.11:c.1752dup MANE Select	ENSP00000333568.6:p.Pro585SerfsTer2
ENST00000651571.1:c.1564dup	ENSP00000498919.1:n.1564dup
ENST00000651616.1:c.1633dup	ENSP00000498661.1:n.1633dup
ENST00000331968.9:c.1752dup	ENSP00000333568.5:p.Pro585SerfsTer2
ENST00000415220.6:c.1776dup	ENSP00000390535.2:p.Pro593SerfsTer2
ENST00000616995.4:c.1752dup	ENSP00000482645.1:p.Pro585SerfsTer2
NM_002742.2:c.1752dup	NP_002733.2:p.Pro585SerfsTer2
XM_005267859.1:c.1776dup	XP_005267916.1:p.Pro593SerfsTer2
XM_011536964.1:c.1548dup	XP_011535266.1:p.Pro517SerfsTer2
XM_011536965.1:c.1488dup	XP_011535267.1:p.Pro497SerfsTer2
XR_943493.1:n.1891dup
NM_001330069.1:c.1776dup	NP_001316998.1:p.Pro593SerfsTer2
NM_001348390.1:c.1488dup	NP_001335319.1:p.Pro497SerfsTer2
XM_011536965.2:c.1488dup	XP_011535267.1:p.Pro497SerfsTer2
XM_017021462.1:c.1257dup	XP_016876951.1:p.Pro420SerfsTer2
XR_943493.2:n.2069dup
NM_001330069.2:c.1776dup	NP_001316998.1:p.Pro593SerfsTer2
NM_002742.3:c.1752dup MANE Select	NP_002733.2:p.Pro585SerfsTer2