Canonical Allele Identifier: CA1781813553

Gene: PRKDC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789068_47789069delinsAG , CM000670.2:g.47789068_47789069delinsAG	GRCh38
NC_000008.10:g.48701629_48701630delinsAG , CM000670.1:g.48701629_48701630delinsAG	GRCh37
NC_000008.9:g.48864182_48864183delinsAG	NCBI36
NG_023435.1:g.176115_176116delinsCT , LRG_162:g.176115_176116delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1332-20_1332-19delinsCT
ENST00000697603.1:c.3436-20_3436-19delinsCT	ENSP00000513358.1:n.3436-20_3436-19delinsCT
ENST00000314191.7:c.10759-20_10759-19delinsCT MANE Select	ENSP00000313420.3:n.10759-20_10759-19delinsCT
ENST00000314191.6:c.10759-20_10759-19delinsCT	ENSP00000313420.3:n.10759-20_10759-19delinsCT
ENST00000338368.7:c.10759-20_10759-19delinsCT	ENSP00000345182.4:n.10759-20_10759-19delinsCT
NM_001081640.1:c.10759-20_10759-19delinsCT	NP_001075109.1:n.10759-20_10759-19delinsCT
NM_006904.6:c.10759-20_10759-19delinsCT , LRG_162t1:c.10759-20_10759-19delinsCT	NP_008835.5:n.10759-20_10759-19delinsCT
XM_011517567.1:c.10762-20_10762-19delinsCT	XP_011515869.1:n.10762-20_10762-19delinsCT
XM_011517568.1:c.10762-20_10762-19delinsCT	XP_011515870.1:n.10762-20_10762-19delinsCT
NM_001081640.2:c.10759-20_10759-19delinsCT	NP_001075109.1:n.10759-20_10759-19delinsCT
NM_006904.7:c.10759-20_10759-19delinsCT MANE Select	NP_008835.5:n.10759-20_10759-19delinsCT