Canonical Allele Identifier: CA2213432006

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636148_23636150delinsCTG , CM000678.2:g.23636148_23636150delinsCTG	GRCh38
NC_000016.9:g.23647469_23647471delinsCTG , CM000678.1:g.23647469_23647471delinsCTG	GRCh37
NC_000016.8:g.23554970_23554972delinsCTG	NCBI36
NG_007406.1:g.10208_10210delinsCAG , LRG_308:g.10208_10210delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.402_404delinsCAG	ENSP00000460666.3:p.Val134=
ENST00000565038.2:c.211+1700_211+1702delinsCAG	ENSP00000459882.2:n.211+1700_211+1702delinsCAG
ENST00000566069.6:c.396_398delinsCAG	ENSP00000459237.2:p.Val132=
ENST00000697377.2:c.402_404delinsCAG	ENSP00000513286.2:p.Val134=
ENST00000697379.2:c.402_404delinsCAG	ENSP00000513287.2:p.Val134=
ENST00000561514.2:c.-490_-488delinsCAG	ENSP00000460666.2:n.-490_-488delinsCAG
ENST00000697374.1:c.-490_-488delinsCAG	ENSP00000513284.1:n.-490_-488delinsCAG
ENST00000697375.1:n.1743_1745delinsCAG
ENST00000697376.1:c.-490_-488delinsCAG	ENSP00000513285.1:n.-490_-488delinsCAG
ENST00000697377.1:c.-490_-488delinsCAG	ENSP00000513286.1:n.-490_-488delinsCAG
ENST00000697378.1:n.916_918delinsCAG
ENST00000697379.1:c.-490_-488delinsCAG	ENSP00000513287.1:n.-490_-488delinsCAG
ENST00000697382.1:c.-490_-488delinsCAG	ENSP00000513288.1:n.-490_-488delinsCAG
ENST00000697383.1:c.48+4960_48+4962delinsCAG	ENSP00000513289.1:n.48+4960_48+4962delinsCAG
ENST00000697384.1:n.550_552delinsCAG
ENST00000261584.9:c.396_398delinsCAG MANE Select	ENSP00000261584.4:p.Val132=
ENST00000261584.8:c.396_398delinsCAG	ENSP00000261584.4:p.Val132=
ENST00000565038.1:c.86+1700_86+1702delinsCAG
ENST00000567003.1:n.674_676delinsCAG
ENST00000568219.5:c.-490_-488delinsCAG	ENSP00000454703.2:n.-490_-488delinsCAG
NM_024675.3:c.396_398delinsCAG , LRG_308t1:c.396_398delinsCAG	NP_078951.2:p.Val132=
XM_011545946.1:c.402_404delinsCAG	XP_011544248.1:p.Val134=
XM_011545947.1:c.402_404delinsCAG	XP_011544249.1:p.Val134=
XM_011545948.1:c.-490_-488delinsCAG	XP_011544250.1:n.-490_-488delinsCAG
XR_950851.1:n.1192_1194delinsCAG
XM_011545946.2:c.402_404delinsCAG	XP_011544248.1:p.Val134=
XM_011545947.2:c.402_404delinsCAG	XP_011544249.1:p.Val134=
XM_011545948.2:c.-490_-488delinsCAG	XP_011544250.1:n.-490_-488delinsCAG
XM_017023671.1:c.402_404delinsCAG	XP_016879160.1:p.Val134=
XM_017023672.2:c.396_398delinsCAG	XP_016879161.1:p.Val132=
XM_017023673.2:c.396_398delinsCAG	XP_016879162.1:p.Val132=
NM_024675.4:c.396_398delinsCAG MANE Select	NP_078951.2:p.Val132=