Canonical Allele Identifier: CA2579161014

Gene: PRKDC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47788948del , CM000670.2:g.47788948del	GRCh38
NC_000008.10:g.48701509del , CM000670.1:g.48701509del	GRCh37
NC_000008.9:g.48864062del	NCBI36
NG_023435.1:g.176238del , LRG_162:g.176238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1435del
ENST00000697603.1:c.3539del	ENSP00000513358.1:p.Lys1180ArgfsTer?
ENST00000314191.7:c.10862del MANE Select	ENSP00000313420.3:p.Lys3621ArgfsTer?
ENST00000314191.6:c.10862del	ENSP00000313420.3:p.Lys3621ArgfsTer?
ENST00000338368.7:c.10862del	ENSP00000345182.4:p.Lys3621ArgfsTer?
NM_001081640.1:c.10862del	NP_001075109.1:p.Lys3621ArgfsTer?
NM_006904.6:c.10862del , LRG_162t1:c.10862del	NP_008835.5:p.Lys3621ArgfsTer?
XM_011517567.1:c.10865del	XP_011515869.1:p.Lys3622ArgfsTer?
XM_011517568.1:c.10865del	XP_011515870.1:p.Lys3622ArgfsTer?
NM_001081640.2:c.10862del	NP_001075109.1:p.Lys3621ArgfsTer?
NM_006904.7:c.10862del MANE Select	NP_008835.5:p.Lys3621ArgfsTer?