Canonical Allele Identifier: CA2687196574

Gene: PRKDC

Linked Data

• gnomAD v4: 8-47789059-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789067_47789068dup , CM000670.2:g.47789067_47789068dup	GRCh38
NC_000008.10:g.48701628_48701629dup , CM000670.1:g.48701628_48701629dup	GRCh37
NC_000008.9:g.48864181_48864182dup	NCBI36
NG_023435.1:g.176123_176124dup , LRG_162:g.176123_176124dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000697602.1:n.1332-12_1332-11dup
ENST00000697603.1:c.3436-12_3436-11dup	ENSP00000513358.1:n.3436-12_3436-11dup
ENST00000314191.7:c.10759-12_10759-11dup MANE Select	ENSP00000313420.3:n.10759-12_10759-11dup
ENST00000314191.6:c.10759-12_10759-11dup	ENSP00000313420.3:n.10759-12_10759-11dup
ENST00000338368.7:c.10759-12_10759-11dup	ENSP00000345182.4:n.10759-12_10759-11dup
NM_001081640.1:c.10759-12_10759-11dup	NP_001075109.1:n.10759-12_10759-11dup
NM_006904.6:c.10759-12_10759-11dup , LRG_162t1:c.10759-12_10759-11dup	NP_008835.5:n.10759-12_10759-11dup
XM_011517567.1:c.10762-12_10762-11dup	XP_011515869.1:n.10762-12_10762-11dup
XM_011517568.1:c.10762-12_10762-11dup	XP_011515870.1:n.10762-12_10762-11dup
NM_001081640.2:c.10759-12_10759-11dup	NP_001075109.1:n.10759-12_10759-11dup
NM_006904.7:c.10759-12_10759-11dup MANE Select	NP_008835.5:n.10759-12_10759-11dup