Canonical Allele Identifier: CA395138163

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603586C>T , CM000678.2:g.23603586C>T	GRCh38
NC_000016.9:g.23614907C>T , CM000678.1:g.23614907C>T	GRCh37
NC_000016.8:g.23522408C>T	NCBI36
NG_007406.1:g.42772G>A , LRG_308:g.42772G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3440G>A	ENSP00000460666.3:p.Gly1147Asp
ENST00000565038.2:c.*919G>A	ENSP00000459882.2:n.*919G>A
ENST00000566069.6:c.*69G>A	ENSP00000459237.2:n.*69G>A
ENST00000697377.2:c.3278G>A	ENSP00000513286.2:p.Gly1093Asp
ENST00000697379.2:c.3440G>A	ENSP00000513287.2:p.Gly1147Asp
ENST00000561514.2:c.2549G>A	ENSP00000460666.2:p.Gly850Asp
ENST00000697374.1:c.2549G>A	ENSP00000513284.1:p.Gly850Asp
ENST00000697375.1:n.4781G>A
ENST00000697376.1:c.*69G>A	ENSP00000513285.1:n.*69G>A
ENST00000697377.1:c.2387G>A	ENSP00000513286.1:p.Gly796Asp
ENST00000697378.1:n.3954G>A
ENST00000697379.1:c.2549G>A	ENSP00000513287.1:p.Gly850Asp
ENST00000697380.1:n.2638G>A
ENST00000697381.1:n.2129G>A
ENST00000697382.1:c.*211G>A	ENSP00000513288.1:n.*211G>A
ENST00000697383.1:c.968G>A	ENSP00000513289.1:p.Gly323Asp
ENST00000261584.9:c.3434G>A MANE Select	ENSP00000261584.4:p.Gly1145Asp
ENST00000261584.8:c.3434G>A	ENSP00000261584.4:p.Gly1145Asp
ENST00000566069.5:c.200G>A
ENST00000568219.5:c.2549G>A	ENSP00000454703.2:p.Gly850Asp
NM_024675.3:c.3434G>A , LRG_308t1:c.3434G>A	NP_078951.2:p.Gly1145Asp
XM_011545946.1:c.3440G>A	XP_011544248.1:p.Gly1147Asp
XM_011545947.1:c.*69G>A	XP_011544249.1:n.*69G>A
XM_011545948.1:c.2549G>A	XP_011544250.1:p.Gly850Asp
XR_950851.1:n.4142G>A
XM_011545946.2:c.3440G>A	XP_011544248.1:p.Gly1147Asp
XM_011545947.2:c.*69G>A	XP_011544249.1:n.*69G>A
XM_011545948.2:c.2549G>A	XP_011544250.1:p.Gly850Asp
XM_017023671.1:c.3203G>A	XP_016879160.1:p.Gly1068Asp
XM_017023672.2:c.3197G>A	XP_016879161.1:p.Gly1066Asp
XM_017023673.2:c.*69G>A	XP_016879162.1:n.*69G>A
NM_024675.4:c.3434G>A MANE Select	NP_078951.2:p.Gly1145Asp