Canonical Allele Identifier: CA2579161015

Gene: PRKDC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47788959dup , CM000670.2:g.47788959dup	GRCh38
NC_000008.10:g.48701520dup , CM000670.1:g.48701520dup	GRCh37
NC_000008.9:g.48864073dup	NCBI36
NG_023435.1:g.176226dup , LRG_162:g.176226dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1423dup
ENST00000697603.1:c.3527dup	ENSP00000513358.1:p.Leu1176PhefsTer3
ENST00000314191.7:c.10850dup MANE Select	ENSP00000313420.3:p.Leu3617PhefsTer3
ENST00000314191.6:c.10850dup	ENSP00000313420.3:p.Leu3617PhefsTer3
ENST00000338368.7:c.10850dup	ENSP00000345182.4:p.Leu3617PhefsTer3
NM_001081640.1:c.10850dup	NP_001075109.1:p.Leu3617PhefsTer3
NM_006904.6:c.10850dup , LRG_162t1:c.10850dup	NP_008835.5:p.Leu3617PhefsTer3
XM_011517567.1:c.10853dup	XP_011515869.1:p.Leu3618PhefsTer3
XM_011517568.1:c.10853dup	XP_011515870.1:p.Leu3618PhefsTer3
NM_001081640.2:c.10850dup	NP_001075109.1:p.Leu3617PhefsTer3
NM_006904.7:c.10850dup MANE Select	NP_008835.5:p.Leu3617PhefsTer3