Canonical Allele Identifier: CA395138136

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603579A>T , CM000678.2:g.23603579A>T	GRCh38
NC_000016.9:g.23614900A>T , CM000678.1:g.23614900A>T	GRCh37
NC_000016.8:g.23522401A>T	NCBI36
NG_007406.1:g.42779T>A , LRG_308:g.42779T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.3441T>A MANE Select	NP_078951.2:p.Cys1147Ter
ENST00000261584.9:c.3441T>A MANE Select	ENSP00000261584.4:p.Cys1147Ter
NM_024675.3:c.3441T>A , LRG_308t1:c.3441T>A	NP_078951.2:p.Cys1147Ter
ENST00000261584.8:c.3441T>A	ENSP00000261584.4:p.Cys1147Ter
ENST00000561514.2:c.2556T>A	ENSP00000460666.2:p.Cys852Ter
ENST00000561514.3:c.3447T>A	ENSP00000460666.3:p.Cys1149Ter
ENST00000565038.2:c.*926T>A	ENSP00000459882.2:n.*926T>A
ENST00000566069.5:c.207T>A
ENST00000566069.6:c.*76T>A	ENSP00000459237.2:n.*76T>A
ENST00000568219.5:c.2556T>A	ENSP00000454703.2:p.Cys852Ter
ENST00000697374.1:c.2556T>A	ENSP00000513284.1:p.Cys852Ter
ENST00000697375.1:n.4788T>A
ENST00000697376.1:c.*76T>A	ENSP00000513285.1:n.*76T>A
ENST00000697377.1:c.2394T>A	ENSP00000513286.1:p.Cys798Ter
ENST00000697377.2:c.3285T>A	ENSP00000513286.2:p.Cys1095Ter
ENST00000697378.1:n.3961T>A
ENST00000697379.1:c.2556T>A	ENSP00000513287.1:p.Cys852Ter
ENST00000697379.2:c.3447T>A	ENSP00000513287.2:p.Cys1149Ter
ENST00000697380.1:n.2645T>A
ENST00000697381.1:n.2136T>A
ENST00000697382.1:c.*218T>A	ENSP00000513288.1:n.*218T>A
ENST00000697383.1:c.975T>A	ENSP00000513289.1:p.Cys325Ter
XM_011545946.1:c.3447T>A	XP_011544248.1:p.Cys1149Ter
XM_011545946.2:c.3447T>A	XP_011544248.1:p.Cys1149Ter
XM_011545947.1:c.*76T>A	XP_011544249.1:n.*76T>A
XM_011545947.2:c.*76T>A	XP_011544249.1:n.*76T>A
XM_011545948.1:c.2556T>A	XP_011544250.1:p.Cys852Ter
XM_011545948.2:c.2556T>A	XP_011544250.1:p.Cys852Ter
XM_017023671.1:c.3210T>A	XP_016879160.1:p.Cys1070Ter
XM_017023672.2:c.3204T>A	XP_016879161.1:p.Cys1068Ter
XM_017023673.2:c.*76T>A	XP_016879162.1:n.*76T>A
XR_950851.1:n.4149T>A