Canonical Allele Identifier: CA2213412239

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23622993A= , CM000678.2:g.23622993A=	GRCh38
NC_000016.9:g.23634314A= , CM000678.1:g.23634314A=	GRCh37
NC_000016.8:g.23541815A=	NCBI36
NG_007406.1:g.23365T= , LRG_308:g.23365T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2978T=	ENSP00000460666.3:p.Val993=
ENST00000565038.2:c.*453T=	ENSP00000459882.2:n.*453T=
ENST00000566069.6:c.2972T=	ENSP00000459237.2:p.Val991=
ENST00000697377.2:c.2816T=	ENSP00000513286.2:p.Val939=
ENST00000697379.2:c.2978T=	ENSP00000513287.2:p.Val993=
ENST00000561514.2:c.2087T=	ENSP00000460666.2:p.Val696=
ENST00000697374.1:c.2087T=	ENSP00000513284.1:p.Val696=
ENST00000697375.1:n.4319T=
ENST00000697376.1:c.2087T=	ENSP00000513285.1:p.Val696=
ENST00000697377.1:c.1925T=	ENSP00000513286.1:p.Val642=
ENST00000697378.1:n.3492T=
ENST00000697379.1:c.2087T=	ENSP00000513287.1:p.Val696=
ENST00000697380.1:n.2264T=
ENST00000697381.1:n.1667T=
ENST00000697382.1:c.2087T=	ENSP00000513288.1:p.Val696=
ENST00000697383.1:c.506T=	ENSP00000513289.1:p.Val169=
ENST00000261584.9:c.2972T= MANE Select	ENSP00000261584.4:p.Val991=
ENST00000261584.8:c.2972T=	ENSP00000261584.4:p.Val991=
ENST00000568219.5:c.2087T=	ENSP00000454703.2:p.Val696=
NM_024675.3:c.2972T= , LRG_308t1:c.2972T=	NP_078951.2:p.Val991=
XM_011545946.1:c.2978T=	XP_011544248.1:p.Val993=
XM_011545947.1:c.2978T=	XP_011544249.1:p.Val993=
XM_011545948.1:c.2087T=	XP_011544250.1:p.Val696=
XR_950851.1:n.3768T=
XM_011545946.2:c.2978T=	XP_011544248.1:p.Val993=
XM_011545947.2:c.2978T=	XP_011544249.1:p.Val993=
XM_011545948.2:c.2087T=	XP_011544250.1:p.Val696=
XM_017023671.1:c.2978T=	XP_016879160.1:p.Val993=
XM_017023672.2:c.2972T=	XP_016879161.1:p.Val991=
XM_017023673.2:c.2972T=	XP_016879162.1:p.Val991=
NM_024675.4:c.2972T= MANE Select	NP_078951.2:p.Val991=