Canonical Allele Identifier: CA1113550377

Gene: PRKDC

Linked Data

• dbSNP Id: rs2088696032
• gnomAD v3: 8-47862299-T-TGTAA
• gnomAD v4: 8-47862299-T-TGTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47862302_47862305dup , CM000670.2:g.47862302_47862305dup	GRCh38
NC_000008.10:g.48774863_48774866dup , CM000670.1:g.48774863_48774866dup	GRCh37
NC_000008.9:g.48937416_48937419dup	NCBI36
NG_023435.1:g.102881_102884dup , LRG_162:g.102881_102884dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314191.7:c.5919+70_5919+73dup MANE Select	ENSP00000313420.3:n.5919+70_5919+73dup
ENST00000314191.6:c.5919+70_5919+73dup	ENSP00000313420.3:n.5919+70_5919+73dup
ENST00000338368.7:c.5919+70_5919+73dup	ENSP00000345182.4:n.5919+70_5919+73dup
NM_001081640.1:c.5919+70_5919+73dup	NP_001075109.1:n.5919+70_5919+73dup
NM_006904.6:c.5919+70_5919+73dup , LRG_162t1:c.5919+70_5919+73dup	NP_008835.5:n.5919+70_5919+73dup
XM_011517567.1:c.5919+70_5919+73dup	XP_011515869.1:n.5919+70_5919+73dup
XM_011517568.1:c.5919+70_5919+73dup	XP_011515870.1:n.5919+70_5919+73dup
NM_001081640.2:c.5919+70_5919+73dup	NP_001075109.1:n.5919+70_5919+73dup
NM_006904.7:c.5919+70_5919+73dup MANE Select	NP_008835.5:n.5919+70_5919+73dup