Canonical Allele Identifier: CA581653066

Gene: PRKDC

Linked Data

• dbSNP Id: rs1284489077
• gnomAD v2: 8-48701554-G-GT
• gnomAD v4: 8-47788993-G-GT
• COSMIC: COSM2962470 ; COSM5518056
• MyVariant Identifiers: chr8:g.48701554_48701555insT (hg19) ; chr8:g.47788993_47788994insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789001dup , CM000670.2:g.47789001dup	GRCh38
NC_000008.10:g.48701562dup , CM000670.1:g.48701562dup	GRCh37
NC_000008.9:g.48864115dup	NCBI36
NG_023435.1:g.176190dup , LRG_162:g.176190dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697602.1:n.1387dup
ENST00000697603.1:c.3491dup	ENSP00000513358.1:p.Asn1164LysfsTer3
ENST00000314191.7:c.10814dup MANE Select	ENSP00000313420.3:p.Asn3605LysfsTer3
ENST00000314191.6:c.10814dup	ENSP00000313420.3:p.Asn3605LysfsTer3
ENST00000338368.7:c.10814dup	ENSP00000345182.4:p.Asn3605LysfsTer3
NM_001081640.1:c.10814dup	NP_001075109.1:p.Asn3605LysfsTer3
NM_006904.6:c.10814dup , LRG_162t1:c.10814dup	NP_008835.5:p.Asn3605LysfsTer3
XM_011517567.1:c.10817dup	XP_011515869.1:p.Asn3606LysfsTer3
XM_011517568.1:c.10817dup	XP_011515870.1:p.Asn3606LysfsTer3
NM_001081640.2:c.10814dup	NP_001075109.1:p.Asn3605LysfsTer3
NM_006904.7:c.10814dup MANE Select	NP_008835.5:p.Asn3605LysfsTer3