Canonical Allele Identifier: CA2780220911

Gene: PRKDC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789155_47789156del , CM000670.2:g.47789155_47789156del	GRCh38
NC_000008.10:g.48701716_48701717del , CM000670.1:g.48701716_48701717del	GRCh37
NC_000008.9:g.48864269_48864270del	NCBI36
NG_023435.1:g.176029_176030del , LRG_162:g.176029_176030del

Transcript Alleles

HGVS	Amino-acid change
ENST00000697602.1:n.1327_1328del
ENST00000697603.1:c.3431_3432del	ENSP00000513358.1:p.Phe1144Ter
ENST00000314191.7:c.10754_10755del MANE Select	ENSP00000313420.3:p.Phe3585Ter
ENST00000314191.6:c.10754_10755del	ENSP00000313420.3:p.Phe3585Ter
ENST00000338368.7:c.10754_10755del	ENSP00000345182.4:p.Phe3585Ter
NM_001081640.1:c.10754_10755del	NP_001075109.1:p.Phe3585Ter
NM_006904.6:c.10754_10755del , LRG_162t1:c.10754_10755del	NP_008835.5:p.Phe3585Ter
XM_011517567.1:c.10757_10758del	XP_011515869.1:p.Phe3586Ter
XM_011517568.1:c.10757_10758del	XP_011515870.1:p.Phe3586Ter
NM_001081640.2:c.10754_10755del	NP_001075109.1:p.Phe3585Ter
NM_006904.7:c.10754_10755del MANE Select	NP_008835.5:p.Phe3585Ter