Canonical Allele Identifier: CA4739240

Gene: PRKDC

Linked Data

• ClinVar Variation Id: 2167107
• ClinVar RCV Id: RCV003080421
• dbSNP Id: rs34211555
• ExAC: 8:48701620 GA / G
• gnomAD v2: 8-48701620-GA-G
• gnomAD v3: 8-47789059-GA-G
• gnomAD v4: 8-47789059-GA-G
• MyVariant Identifiers: chr8:g.48701621del (hg19) ; chr8:g.47789060del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47789068del , CM000670.2:g.47789068del	GRCh38
NC_000008.10:g.48701629del , CM000670.1:g.48701629del	GRCh37
NC_000008.9:g.48864182del	NCBI36
NG_023435.1:g.176124del , LRG_162:g.176124del

Transcript Alleles

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