Canonical Allele Identifier: CA1781897803

Gene: PRKDC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47920360_47920376delinsCTATGTGTCTTTGCAAG , CM000670.2:g.47920360_47920376delinsCTATGTGTCTTTGCAAG	GRCh38
NC_000008.10:g.48832920_48832936delinsCTATGTGTCTTTGCAAG , CM000670.1:g.48832920_48832936delinsCTATGTGTCTTTGCAAG	GRCh37
NC_000008.9:g.48995473_48995489delinsCTATGTGTCTTTGCAAG	NCBI36
NG_023435.1:g.44808_44824delinsCTTGCAAAGACACATAG , LRG_162:g.44808_44824delinsCTTGCAAAGACACATAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314191.7:c.2420-1993_2420-1977delinsCTTGCAAAGACACATAG MANE Select	ENSP00000313420.3:n.2420-1993_2420-1977delinsCTTGCAAAGACACATA...
ENST00000314191.6:c.2420-1993_2420-1977delinsCTTGCAAAGACACATAG	ENSP00000313420.3:n.2420-1993_2420-1977delinsCTTGCAAAGACACATA...
ENST00000338368.7:c.2420-1993_2420-1977delinsCTTGCAAAGACACATAG	ENSP00000345182.4:n.2420-1993_2420-1977delinsCTTGCAAAGACACATA...
NM_001081640.1:c.2420-1993_2420-1977delinsCTTGCAAAGACACATAG	NP_001075109.1:n.2420-1993_2420-1977delinsCTTGCAAAGACACATAG
NM_006904.6:c.2420-1993_2420-1977delinsCTTGCAAAGACACATAG , LRG_162t1:c.2420-1993_2420-1977delinsCTTGCAAAGACACATAG	NP_008835.5:n.2420-1993_2420-1977delinsCTTGCAAAGACACATAG
XM_011517567.1:c.2420-1993_2420-1977delinsCTTGCAAAGACACATAG	XP_011515869.1:n.2420-1993_2420-1977delinsCTTGCAAAGACACATAG
XM_011517568.1:c.2420-1993_2420-1977delinsCTTGCAAAGACACATAG	XP_011515870.1:n.2420-1993_2420-1977delinsCTTGCAAAGACACATAG
NM_001081640.2:c.2420-1993_2420-1977delinsCTTGCAAAGACACATAG	NP_001075109.1:n.2420-1993_2420-1977delinsCTTGCAAAGACACATAG
NM_006904.7:c.2420-1993_2420-1977delinsCTTGCAAAGACACATAG MANE Select	NP_008835.5:n.2420-1993_2420-1977delinsCTTGCAAAGACACATAG