Canonical Allele Identifier: CA2687196553

Gene: PRKDC

Linked Data

• gnomAD v4: 8-47789049-CCTGTCAGGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789050_47789059del , CM000670.2:g.47789050_47789059del	GRCh38
NC_000008.10:g.48701611_48701620del , CM000670.1:g.48701611_48701620del	GRCh37
NC_000008.9:g.48864164_48864173del	NCBI36
NG_023435.1:g.176125_176134del , LRG_162:g.176125_176134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1332-10_1332-1del
ENST00000697603.1:c.3436-10_3436-1del	ENSP00000513358.1:n.3436-10_3436-1del
ENST00000314191.7:c.10759-10_10759-1del MANE Select	ENSP00000313420.3:n.10759-10_10759-1del
ENST00000314191.6:c.10759-10_10759-1del	ENSP00000313420.3:n.10759-10_10759-1del
ENST00000338368.7:c.10759-10_10759-1del	ENSP00000345182.4:n.10759-10_10759-1del
NM_001081640.1:c.10759-10_10759-1del	NP_001075109.1:n.10759-10_10759-1del
NM_006904.6:c.10759-10_10759-1del , LRG_162t1:c.10759-10_10759-1del	NP_008835.5:n.10759-10_10759-1del
XM_011517567.1:c.10762-10_10762-1del	XP_011515869.1:n.10762-10_10762-1del
XM_011517568.1:c.10762-10_10762-1del	XP_011515870.1:n.10762-10_10762-1del
NM_001081640.2:c.10759-10_10759-1del	NP_001075109.1:n.10759-10_10759-1del
NM_006904.7:c.10759-10_10759-1del MANE Select	NP_008835.5:n.10759-10_10759-1del