Canonical Allele Identifier: CA2687196482

Gene: PRKDC

Linked Data

• gnomAD v4: 8-47788982-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47788988dup , CM000670.2:g.47788988dup	GRCh38
NC_000008.10:g.48701549dup , CM000670.1:g.48701549dup	GRCh37
NC_000008.9:g.48864102dup	NCBI36
NG_023435.1:g.176201dup , LRG_162:g.176201dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1398dup
ENST00000697603.1:c.3502dup	ENSP00000513358.1:p.Met1168AsnfsTer3
ENST00000314191.7:c.10825dup MANE Select	ENSP00000313420.3:p.Met3609AsnfsTer3
ENST00000314191.6:c.10825dup	ENSP00000313420.3:p.Met3609AsnfsTer3
ENST00000338368.7:c.10825dup	ENSP00000345182.4:p.Met3609AsnfsTer3
NM_001081640.1:c.10825dup	NP_001075109.1:p.Met3609AsnfsTer3
NM_006904.6:c.10825dup , LRG_162t1:c.10825dup	NP_008835.5:p.Met3609AsnfsTer3
XM_011517567.1:c.10828dup	XP_011515869.1:p.Met3610AsnfsTer3
XM_011517568.1:c.10828dup	XP_011515870.1:p.Met3610AsnfsTer3
NM_001081640.2:c.10825dup	NP_001075109.1:p.Met3609AsnfsTer3
NM_006904.7:c.10825dup MANE Select	NP_008835.5:p.Met3609AsnfsTer3