Canonical Allele Identifier: CA4739242
Gene: PRKDC HGNC NCBI

Linked Data

ClinVar Variation Id: 2915101
ClinVar RCV Id: RCV003749682
dbSNP Id: rs763608956
ExAC: 8:48701620 G / A
gnomAD v2: 8-48701620-G-A
gnomAD v4: 8-47789059-G-A
MyVariant Identifiers: chr8:g.48701620G>A (hg19) chr8:g.48701620_48701621delinsAA (hg19) chr8:g.47789059G>A (hg38) chr8:g.47789059_47789060delinsAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47789059G>A , CM000670.2:g.47789059G>A GRCh38
NC_000008.10:g.48701620G>A , CM000670.1:g.48701620G>A GRCh37
NC_000008.9:g.48864173G>A NCBI36
NG_023435.1:g.176125C>T , LRG_162:g.176125C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697602.1:n.1332-10C>T
ENST00000697603.1:c.3436-10C>T ENSP00000513358.1:n.3436-10C>T
ENST00000314191.7:c.10759-10C>T MANE Select ENSP00000313420.3:n.10759-10C>T
ENST00000314191.6:c.10759-10C>T ENSP00000313420.3:n.10759-10C>T
ENST00000338368.7:c.10759-10C>T ENSP00000345182.4:n.10759-10C>T
NM_001081640.1:c.10759-10C>T NP_001075109.1:n.10759-10C>T
NM_006904.6:c.10759-10C>T , LRG_162t1:c.10759-10C>T NP_008835.5:n.10759-10C>T
XM_011517567.1:c.10762-10C>T XP_011515869.1:n.10762-10C>T
XM_011517568.1:c.10762-10C>T XP_011515870.1:n.10762-10C>T
NM_001081640.2:c.10759-10C>T NP_001075109.1:n.10759-10C>T
NM_006904.7:c.10759-10C>T MANE Select NP_008835.5:n.10759-10C>T
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