Canonical Allele Identifier: CA1781813545
Gene: PRKDC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47789059_47789060delinsGA , CM000670.2:g.47789059_47789060delinsGA GRCh38
NC_000008.10:g.48701620_48701621delinsGA , CM000670.1:g.48701620_48701621delinsGA GRCh37
NC_000008.9:g.48864173_48864174delinsGA NCBI36
NG_023435.1:g.176124_176125delinsTC , LRG_162:g.176124_176125delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000697602.1:n.1332-11_1332-10delinsTC
ENST00000697603.1:c.3436-11_3436-10delinsTC ENSP00000513358.1:n.3436-11_3436-10delinsTC
ENST00000314191.7:c.10759-11_10759-10delinsTC MANE Select ENSP00000313420.3:n.10759-11_10759-10delinsTC
ENST00000314191.6:c.10759-11_10759-10delinsTC ENSP00000313420.3:n.10759-11_10759-10delinsTC
ENST00000338368.7:c.10759-11_10759-10delinsTC ENSP00000345182.4:n.10759-11_10759-10delinsTC
NM_001081640.1:c.10759-11_10759-10delinsTC NP_001075109.1:n.10759-11_10759-10delinsTC
NM_006904.6:c.10759-11_10759-10delinsTC , LRG_162t1:c.10759-11_10759-10delinsTC NP_008835.5:n.10759-11_10759-10delinsTC
XM_011517567.1:c.10762-11_10762-10delinsTC XP_011515869.1:n.10762-11_10762-10delinsTC
XM_011517568.1:c.10762-11_10762-10delinsTC XP_011515870.1:n.10762-11_10762-10delinsTC
NM_001081640.2:c.10759-11_10759-10delinsTC NP_001075109.1:n.10759-11_10759-10delinsTC
NM_006904.7:c.10759-11_10759-10delinsTC MANE Select NP_008835.5:n.10759-11_10759-10delinsTC