Canonical Allele Identifier: CA395122133

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23626337T>A , CM000678.2:g.23626337T>A	GRCh38
NC_000016.9:g.23637658T>A , CM000678.1:g.23637658T>A	GRCh37
NC_000016.8:g.23545159T>A	NCBI36
NG_007406.1:g.20021A>T , LRG_308:g.20021A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.2647A>T MANE Select	NP_078951.2:p.Lys883Ter
ENST00000261584.9:c.2647A>T MANE Select	ENSP00000261584.4:p.Lys883Ter
NM_024675.3:c.2647A>T , LRG_308t1:c.2647A>T	NP_078951.2:p.Lys883Ter
ENST00000261584.8:c.2647A>T	ENSP00000261584.4:p.Lys883Ter
ENST00000561514.2:c.1762A>T	ENSP00000460666.2:p.Lys588Ter
ENST00000561514.3:c.2653A>T	ENSP00000460666.3:p.Lys885Ter
ENST00000565038.1:c.219A>T
ENST00000565038.2:c.*128A>T	ENSP00000459882.2:n.*128A>T
ENST00000566069.6:c.2647A>T	ENSP00000459237.2:p.Lys883Ter
ENST00000568219.5:c.1762A>T	ENSP00000454703.2:p.Lys588Ter
ENST00000697374.1:c.1762A>T	ENSP00000513284.1:p.Lys588Ter
ENST00000697375.1:n.3994A>T
ENST00000697376.1:c.1762A>T	ENSP00000513285.1:p.Lys588Ter
ENST00000697377.1:c.1702-2243A>T	ENSP00000513286.1:n.1702-2243A>T
ENST00000697377.2:c.2593-2243A>T	ENSP00000513286.2:n.2593-2243A>T
ENST00000697378.1:n.3167A>T
ENST00000697379.1:c.1762A>T	ENSP00000513287.1:p.Lys588Ter
ENST00000697379.2:c.2653A>T	ENSP00000513287.2:p.Lys885Ter
ENST00000697380.1:n.1939A>T
ENST00000697381.1:n.1342A>T
ENST00000697382.1:c.1762A>T	ENSP00000513288.1:p.Lys588Ter
ENST00000697383.1:c.181A>T	ENSP00000513289.1:p.Lys61Ter
XM_011545946.1:c.2653A>T	XP_011544248.1:p.Lys885Ter
XM_011545946.2:c.2653A>T	XP_011544248.1:p.Lys885Ter
XM_011545947.1:c.2653A>T	XP_011544249.1:p.Lys885Ter
XM_011545947.2:c.2653A>T	XP_011544249.1:p.Lys885Ter
XM_011545948.1:c.1762A>T	XP_011544250.1:p.Lys588Ter
XM_011545948.2:c.1762A>T	XP_011544250.1:p.Lys588Ter
XM_017023671.1:c.2653A>T	XP_016879160.1:p.Lys885Ter
XM_017023672.2:c.2647A>T	XP_016879161.1:p.Lys883Ter
XM_017023673.2:c.2647A>T	XP_016879162.1:p.Lys883Ter
XR_950851.1:n.3443A>T