Canonical Allele Identifier: CA2213428804

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607913G= , CM000678.2:g.23607913G=	GRCh38
NC_000016.9:g.23619234G= , CM000678.1:g.23619234G=	GRCh37
NC_000016.8:g.23526735G=	NCBI36
NG_007406.1:g.38445C= , LRG_308:g.38445C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3307C=	ENSP00000460666.3:p.Leu1103=
ENST00000565038.2:c.*782C=	ENSP00000459882.2:n.*782C=
ENST00000566069.6:c.3202-4244C=	ENSP00000459237.2:n.3202-4244C=
ENST00000697377.2:c.3145C=	ENSP00000513286.2:p.Leu1049=
ENST00000697379.2:c.3307C=	ENSP00000513287.2:p.Leu1103=
ENST00000561514.2:c.2416C=	ENSP00000460666.2:p.Leu806=
ENST00000697374.1:c.2416C=	ENSP00000513284.1:p.Leu806=
ENST00000697375.1:n.4648C=
ENST00000697376.1:c.2317-4244C=	ENSP00000513285.1:n.2317-4244C=
ENST00000697377.1:c.2254C=	ENSP00000513286.1:p.Leu752=
ENST00000697378.1:n.3821C=
ENST00000697379.1:c.2416C=	ENSP00000513287.1:p.Leu806=
ENST00000697380.1:n.2505C=
ENST00000697381.1:n.1996C=
ENST00000697382.1:c.*78C=	ENSP00000513288.1:n.*78C=
ENST00000697383.1:c.835C=	ENSP00000513289.1:p.Leu279=
ENST00000261584.9:c.3301C= MANE Select	ENSP00000261584.4:p.Leu1101=
ENST00000261584.8:c.3301C=	ENSP00000261584.4:p.Leu1101=
ENST00000566069.5:c.117-4244C=
ENST00000568219.5:c.2416C=	ENSP00000454703.2:p.Leu806=
NM_024675.3:c.3301C= , LRG_308t1:c.3301C=	NP_078951.2:p.Leu1101=
XM_011545946.1:c.3307C=	XP_011544248.1:p.Leu1103=
XM_011545947.1:c.3208-4244C=	XP_011544249.1:n.3208-4244C=
XM_011545948.1:c.2416C=	XP_011544250.1:p.Leu806=
XR_950851.1:n.4009C=
XM_011545946.2:c.3307C=	XP_011544248.1:p.Leu1103=
XM_011545947.2:c.3208-4244C=	XP_011544249.1:n.3208-4244C=
XM_011545948.2:c.2416C=	XP_011544250.1:p.Leu806=
XM_017023671.1:c.3120-4244C=	XP_016879160.1:n.3120-4244C=
XM_017023672.2:c.3114-4244C=	XP_016879161.1:n.3114-4244C=
XM_017023673.2:c.3202-4244C=	XP_016879162.1:n.3202-4244C=
NM_024675.4:c.3301C= MANE Select	NP_078951.2:p.Leu1101=