Canonical Allele Identifier: CA7141052

Gene: PRKD1

Linked Data

• dbSNP Id: rs757029532
• ExAC: 14:30095664 T / TA
• gnomAD v2: 14-30095664-T-TA
• gnomAD v4: 14-29626458-T-TA
• MyVariant Identifiers: chr14:g.30095664_30095665insA (hg19) ; chr14:g.29626458_29626459insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.29626463dup , CM000676.2:g.29626463dup	GRCh38
NC_000014.8:g.30095669dup , CM000676.1:g.30095669dup	GRCh37
NC_000014.7:g.29165420dup	NCBI36
NG_052879.1:g.306235dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000616995.5:n.1569+25dup
ENST00000691517.1:n.1082+25dup
ENST00000331968.11:c.1798+25dup MANE Select	ENSP00000333568.6:n.1798+25dup
ENST00000651571.1:c.1610+25dup	ENSP00000498919.1:n.1610+25dup
ENST00000651616.1:c.1679+25dup	ENSP00000498661.1:n.1679+25dup
ENST00000331968.9:c.1798+25dup	ENSP00000333568.5:n.1798+25dup
ENST00000415220.6:c.1822+25dup	ENSP00000390535.2:n.1822+25dup
ENST00000616995.4:c.1798+25dup	ENSP00000482645.1:n.1798+25dup
NM_002742.2:c.1798+25dup	NP_002733.2:n.1798+25dup
XM_005267859.1:c.1822+25dup	XP_005267916.1:n.1822+25dup
XM_011536964.1:c.1594+25dup	XP_011535266.1:n.1594+25dup
XM_011536965.1:c.1534+25dup	XP_011535267.1:n.1534+25dup
XR_943493.1:n.1937+25dup
NM_001330069.1:c.1822+25dup	NP_001316998.1:n.1822+25dup
NM_001348390.1:c.1534+25dup	NP_001335319.1:n.1534+25dup
XM_011536965.2:c.1534+25dup	XP_011535267.1:n.1534+25dup
XM_017021462.1:c.1303+25dup	XP_016876951.1:n.1303+25dup
XR_943493.2:n.2115+25dup
NM_001330069.2:c.1822+25dup	NP_001316998.1:n.1822+25dup
NM_002742.3:c.1798+25dup MANE Select	NP_002733.2:n.1798+25dup