Canonical Allele Identifier: CA581658107

Gene: PRKDC

Linked Data

• dbSNP Id: rs1318372402
• gnomAD v2: 8-48765203-GTATT-G
• gnomAD v4: 8-47852642-GTATT-G
• MyVariant Identifiers: chr8:g.48765204_48765207del (hg19) ; chr8:g.47852643_47852646del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47852647_47852650del , CM000670.2:g.47852647_47852650del	GRCh38
NC_000008.10:g.48765208_48765211del , CM000670.1:g.48765208_48765211del	GRCh37
NC_000008.9:g.48927761_48927764del	NCBI36
NG_023435.1:g.112538_112541del , LRG_162:g.112538_112541del

Transcript Alleles

HGVS	Amino-acid change
ENST00000314191.7:c.7005+27_7005+30del MANE Select	ENSP00000313420.3:n.7005+27_7005+30del
ENST00000314191.6:c.7005+27_7005+30del	ENSP00000313420.3:n.7005+27_7005+30del
ENST00000338368.7:c.7005+27_7005+30del	ENSP00000345182.4:n.7005+27_7005+30del
NM_001081640.1:c.7005+27_7005+30del	NP_001075109.1:n.7005+27_7005+30del
NM_006904.6:c.7005+27_7005+30del , LRG_162t1:c.7005+27_7005+30del	NP_008835.5:n.7005+27_7005+30del
XM_011517567.1:c.7005+27_7005+30del	XP_011515869.1:n.7005+27_7005+30del
XM_011517568.1:c.7005+27_7005+30del	XP_011515870.1:n.7005+27_7005+30del
NM_001081640.2:c.7005+27_7005+30del	NP_001075109.1:n.7005+27_7005+30del
NM_006904.7:c.7005+27_7005+30del MANE Select	NP_008835.5:n.7005+27_7005+30del