Canonical Allele Identifier: CA7963339

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603588G>A , CM000678.2:g.23603588G>A	GRCh38
NC_000016.9:g.23614909G>A , CM000678.1:g.23614909G>A	GRCh37
NC_000016.8:g.23522410G>A	NCBI36
NG_007406.1:g.42770C>T , LRG_308:g.42770C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3438C>T	ENSP00000460666.3:p.Leu1146=
ENST00000565038.2:c.*917C>T	ENSP00000459882.2:n.*917C>T
ENST00000566069.6:c.*67C>T	ENSP00000459237.2:n.*67C>T
ENST00000697377.2:c.3276C>T	ENSP00000513286.2:p.Leu1092=
ENST00000697379.2:c.3438C>T	ENSP00000513287.2:p.Leu1146=
ENST00000561514.2:c.2547C>T	ENSP00000460666.2:p.Leu849=
ENST00000697374.1:c.2547C>T	ENSP00000513284.1:p.Leu849=
ENST00000697375.1:n.4779C>T
ENST00000697376.1:c.*67C>T	ENSP00000513285.1:n.*67C>T
ENST00000697377.1:c.2385C>T	ENSP00000513286.1:p.Leu795=
ENST00000697378.1:n.3952C>T
ENST00000697379.1:c.2547C>T	ENSP00000513287.1:p.Leu849=
ENST00000697380.1:n.2636C>T
ENST00000697381.1:n.2127C>T
ENST00000697382.1:c.*209C>T	ENSP00000513288.1:n.*209C>T
ENST00000697383.1:c.966C>T	ENSP00000513289.1:p.Leu322=
ENST00000261584.9:c.3432C>T MANE Select	ENSP00000261584.4:p.Leu1144=
ENST00000261584.8:c.3432C>T	ENSP00000261584.4:p.Leu1144=
ENST00000566069.5:c.198C>T
ENST00000568219.5:c.2547C>T	ENSP00000454703.2:p.Leu849=
NM_024675.3:c.3432C>T , LRG_308t1:c.3432C>T	NP_078951.2:p.Leu1144=
XM_011545946.1:c.3438C>T	XP_011544248.1:p.Leu1146=
XM_011545947.1:c.*67C>T	XP_011544249.1:n.*67C>T
XM_011545948.1:c.2547C>T	XP_011544250.1:p.Leu849=
XR_950851.1:n.4140C>T
XM_011545946.2:c.3438C>T	XP_011544248.1:p.Leu1146=
XM_011545947.2:c.*67C>T	XP_011544249.1:n.*67C>T
XM_011545948.2:c.2547C>T	XP_011544250.1:p.Leu849=
XM_017023671.1:c.3201C>T	XP_016879160.1:p.Leu1067=
XM_017023672.2:c.3195C>T	XP_016879161.1:p.Leu1065=
XM_017023673.2:c.*67C>T	XP_016879162.1:n.*67C>T
NM_024675.4:c.3432C>T MANE Select	NP_078951.2:p.Leu1144=