Canonical Allele Identifier: CA1781813540

Gene: PRKDC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789055_47789056delinsAG , CM000670.2:g.47789055_47789056delinsAG	GRCh38
NC_000008.10:g.48701616_48701617delinsAG , CM000670.1:g.48701616_48701617delinsAG	GRCh37
NC_000008.9:g.48864169_48864170delinsAG	NCBI36
NG_023435.1:g.176128_176129delinsCT , LRG_162:g.176128_176129delinsCT

Transcript Alleles

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