Canonical Allele Identifier: CA2580091395

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1780422
• ClinVar RCV Id: RCV002410015

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630346_23630353dup , CM000678.2:g.23630346_23630353dup	GRCh38
NC_000016.9:g.23641667_23641674dup , CM000678.1:g.23641667_23641674dup	GRCh37
NC_000016.8:g.23549168_23549175dup	NCBI36
NG_007406.1:g.16006_16013dup , LRG_308:g.16006_16013dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1808_1815dup	ENSP00000460666.3:p.Leu606SerfsTer27
ENST00000565038.2:c.212-1077_212-1070dup	ENSP00000459882.2:n.212-1077_212-1070dup
ENST00000566069.6:c.1802_1809dup	ENSP00000459237.2:p.Leu604SerfsTer27
ENST00000697377.2:c.1808_1815dup	ENSP00000513286.2:p.Leu606SerfsTer27
ENST00000697379.2:c.1808_1815dup	ENSP00000513287.2:p.Leu606SerfsTer27
ENST00000561514.2:c.917_924dup	ENSP00000460666.2:p.Leu309SerfsTer27
ENST00000697374.1:c.917_924dup	ENSP00000513284.1:p.Leu309SerfsTer27
ENST00000697375.1:n.3149_3156dup
ENST00000697376.1:c.917_924dup	ENSP00000513285.1:p.Leu309SerfsTer27
ENST00000697377.1:c.917_924dup	ENSP00000513286.1:p.Leu309SerfsTer27
ENST00000697378.1:n.2322_2329dup
ENST00000697379.1:c.917_924dup	ENSP00000513287.1:p.Leu309SerfsTer27
ENST00000697380.1:n.730_737dup
ENST00000697381.1:n.497_504dup
ENST00000697382.1:c.917_924dup	ENSP00000513288.1:p.Leu309SerfsTer27
ENST00000697383.1:c.49-1077_49-1070dup	ENSP00000513289.1:n.49-1077_49-1070dup
ENST00000697384.1:n.1956_1963dup
ENST00000261584.9:c.1802_1809dup MANE Select	ENSP00000261584.4:p.Leu604SerfsTer27
ENST00000261584.8:c.1802_1809dup	ENSP00000261584.4:p.Leu604SerfsTer27
ENST00000565038.1:c.87-1077_87-1070dup
ENST00000568219.5:c.917_924dup	ENSP00000454703.2:p.Leu309SerfsTer27
NM_024675.3:c.1802_1809dup , LRG_308t1:c.1802_1809dup	NP_078951.2:p.Leu604SerfsTer27
XM_011545946.1:c.1808_1815dup	XP_011544248.1:p.Leu606SerfsTer27
XM_011545947.1:c.1808_1815dup	XP_011544249.1:p.Leu606SerfsTer27
XM_011545948.1:c.917_924dup	XP_011544250.1:p.Leu309SerfsTer27
XR_950851.1:n.2598_2605dup
XM_011545946.2:c.1808_1815dup	XP_011544248.1:p.Leu606SerfsTer27
XM_011545947.2:c.1808_1815dup	XP_011544249.1:p.Leu606SerfsTer27
XM_011545948.2:c.917_924dup	XP_011544250.1:p.Leu309SerfsTer27
XM_017023671.1:c.1808_1815dup	XP_016879160.1:p.Leu606SerfsTer27
XM_017023672.2:c.1802_1809dup	XP_016879161.1:p.Leu604SerfsTer27
XM_017023673.2:c.1802_1809dup	XP_016879162.1:p.Leu604SerfsTer27
NM_024675.4:c.1802_1809dup MANE Select	NP_078951.2:p.Leu604SerfsTer27