Canonical Allele Identifier: CA2780220906

Gene: PRKDC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789065_47789066insCCAAACACACCCAACAC , CM000670.2:g.47789065_47789066insCCAAACACACCCAACAC	GRCh38
NC_000008.10:g.48701626_48701627insCCAAACACACCCAACAC , CM000670.1:g.48701626_48701627insCCAAACACACCCAACAC	GRCh37
NC_000008.9:g.48864179_48864180insCCAAACACACCCAACAC	NCBI36
NG_023435.1:g.176118_176119insGTGTTGGGTGTGTTTGG , LRG_162:g.176118_176119insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1332-17_1332-16insGTGTTGGGTGTGTTTGG
ENST00000697603.1:c.3436-17_3436-16insGTGTTGGGTGTGTTTGG	ENSP00000513358.1:n.3436-17_3436-16insGTGTTGGGTGTGTTTGG
ENST00000314191.7:c.10759-17_10759-16insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000313420.3:n.10759-17_10759-16insGTGTTGGGTGTGTTTGG
ENST00000314191.6:c.10759-17_10759-16insGTGTTGGGTGTGTTTGG	ENSP00000313420.3:n.10759-17_10759-16insGTGTTGGGTGTGTTTGG
ENST00000338368.7:c.10759-17_10759-16insGTGTTGGGTGTGTTTGG	ENSP00000345182.4:n.10759-17_10759-16insGTGTTGGGTGTGTTTGG
NM_001081640.1:c.10759-17_10759-16insGTGTTGGGTGTGTTTGG	NP_001075109.1:n.10759-17_10759-16insGTGTTGGGTGTGTTTGG
NM_006904.6:c.10759-17_10759-16insGTGTTGGGTGTGTTTGG , LRG_162t1:c.10759-17_10759-16insGTGTTGGGTGTGTTTGG	NP_008835.5:n.10759-17_10759-16insGTGTTGGGTGTGTTTGG
XM_011517567.1:c.10762-17_10762-16insGTGTTGGGTGTGTTTGG	XP_011515869.1:n.10762-17_10762-16insGTGTTGGGTGTGTTTGG
XM_011517568.1:c.10762-17_10762-16insGTGTTGGGTGTGTTTGG	XP_011515870.1:n.10762-17_10762-16insGTGTTGGGTGTGTTTGG
NM_001081640.2:c.10759-17_10759-16insGTGTTGGGTGTGTTTGG	NP_001075109.1:n.10759-17_10759-16insGTGTTGGGTGTGTTTGG
NM_006904.7:c.10759-17_10759-16insGTGTTGGGTGTGTTTGG MANE Select	NP_008835.5:n.10759-17_10759-16insGTGTTGGGTGTGTTTGG