Canonical Allele Identifier: CA1781813588

Gene: PRKDC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789138_47789140delinsGTT , CM000670.2:g.47789138_47789140delinsGTT	GRCh38
NC_000008.10:g.48701699_48701701delinsGTT , CM000670.1:g.48701699_48701701delinsGTT	GRCh37
NC_000008.9:g.48864252_48864254delinsGTT	NCBI36
NG_023435.1:g.176044_176046delinsAAC , LRG_162:g.176044_176046delinsAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000697602.1:n.1331+11_1331+13delinsAAC
ENST00000697603.1:c.3435+11_3435+13delinsAAC	ENSP00000513358.1:n.3435+11_3435+13delins...
ENST00000314191.7:c.10758+11_10758+13delinsAAC MANE Select	ENSP00000313420.3:n.10758+11_10758+13deli...
ENST00000314191.6:c.10758+11_10758+13delinsAAC	ENSP00000313420.3:n.10758+11_10758+13deli...
ENST00000338368.7:c.10758+11_10758+13delinsAAC	ENSP00000345182.4:n.10758+11_10758+13deli...
NM_001081640.1:c.10758+11_10758+13delinsAAC	NP_001075109.1:n.10758+11_10758+13delinsA...
NM_006904.6:c.10758+11_10758+13delinsAAC , LRG_162t1:c.10758+11_10758+13delinsAAC	NP_008835.5:n.10758+11_10758+13delinsAAC
XM_011517567.1:c.10761+11_10761+13delinsAAC	XP_011515869.1:n.10761+11_10761+13delinsA...
XM_011517568.1:c.10761+11_10761+13delinsAAC	XP_011515870.1:n.10761+11_10761+13delinsA...
NM_001081640.2:c.10758+11_10758+13delinsAAC	NP_001075109.1:n.10758+11_10758+13delinsA...
NM_006904.7:c.10758+11_10758+13delinsAAC MANE Select	NP_008835.5:n.10758+11_10758+13delinsAAC