Canonical Allele Identifier: CA2213424327

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630313A= , CM000678.2:g.23630313A=	GRCh38
NC_000016.9:g.23641634A= , CM000678.1:g.23641634A=	GRCh37
NC_000016.8:g.23549135A=	NCBI36
NG_007406.1:g.16045T= , LRG_308:g.16045T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1847T=	ENSP00000460666.3:p.Leu616=
ENST00000565038.2:c.212-1038T=	ENSP00000459882.2:n.212-1038T=
ENST00000566069.6:c.1841T=	ENSP00000459237.2:p.Leu614=
ENST00000697377.2:c.1847T=	ENSP00000513286.2:p.Leu616=
ENST00000697379.2:c.1847T=	ENSP00000513287.2:p.Leu616=
ENST00000561514.2:c.956T=	ENSP00000460666.2:p.Leu319=
ENST00000697374.1:c.956T=	ENSP00000513284.1:p.Leu319=
ENST00000697375.1:n.3188T=
ENST00000697376.1:c.956T=	ENSP00000513285.1:p.Leu319=
ENST00000697377.1:c.956T=	ENSP00000513286.1:p.Leu319=
ENST00000697378.1:n.2361T=
ENST00000697379.1:c.956T=	ENSP00000513287.1:p.Leu319=
ENST00000697380.1:n.769T=
ENST00000697381.1:n.536T=
ENST00000697382.1:c.956T=	ENSP00000513288.1:p.Leu319=
ENST00000697383.1:c.49-1038T=	ENSP00000513289.1:n.49-1038T=
ENST00000697384.1:n.1995T=
ENST00000261584.9:c.1841T= MANE Select	ENSP00000261584.4:p.Leu614=
ENST00000261584.8:c.1841T=	ENSP00000261584.4:p.Leu614=
ENST00000565038.1:c.87-1038T=
ENST00000568219.5:c.956T=	ENSP00000454703.2:p.Leu319=
NM_024675.3:c.1841T= , LRG_308t1:c.1841T=	NP_078951.2:p.Leu614=
XM_011545946.1:c.1847T=	XP_011544248.1:p.Leu616=
XM_011545947.1:c.1847T=	XP_011544249.1:p.Leu616=
XM_011545948.1:c.956T=	XP_011544250.1:p.Leu319=
XR_950851.1:n.2637T=
XM_011545946.2:c.1847T=	XP_011544248.1:p.Leu616=
XM_011545947.2:c.1847T=	XP_011544249.1:p.Leu616=
XM_011545948.2:c.956T=	XP_011544250.1:p.Leu319=
XM_017023671.1:c.1847T=	XP_016879160.1:p.Leu616=
XM_017023672.2:c.1841T=	XP_016879161.1:p.Leu614=
XM_017023673.2:c.1841T=	XP_016879162.1:p.Leu614=
NM_024675.4:c.1841T= MANE Select	NP_078951.2:p.Leu614=