Canonical Allele Identifier: CA2695197473

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674184
• ClinVar RCV Id: RCV003452380

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635105_23635108del , CM000678.2:g.23635105_23635108del	GRCh38
NC_000016.9:g.23646426_23646429del , CM000678.1:g.23646426_23646429del	GRCh37
NC_000016.8:g.23553927_23553930del	NCBI36
NG_007406.1:g.11250_11253del , LRG_308:g.11250_11253del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1444_1447del	ENSP00000460666.3:p.Lys482PhefsTer4
ENST00000565038.2:c.211+2742_211+2745del	ENSP00000459882.2:n.211+2742_211+2745del
ENST00000566069.6:c.1438_1441del	ENSP00000459237.2:p.Lys480PhefsTer4
ENST00000697377.2:c.1444_1447del	ENSP00000513286.2:p.Lys482PhefsTer4
ENST00000697379.2:c.1444_1447del	ENSP00000513287.2:p.Lys482PhefsTer4
ENST00000561514.2:c.553_556del	ENSP00000460666.2:p.Lys185PhefsTer4
ENST00000697374.1:c.553_556del	ENSP00000513284.1:p.Lys185PhefsTer4
ENST00000697375.1:n.2785_2788del
ENST00000697376.1:c.553_556del	ENSP00000513285.1:p.Lys185PhefsTer4
ENST00000697377.1:c.553_556del	ENSP00000513286.1:p.Lys185PhefsTer4
ENST00000697378.1:n.1958_1961del
ENST00000697379.1:c.553_556del	ENSP00000513287.1:p.Lys185PhefsTer4
ENST00000697382.1:c.553_556del	ENSP00000513288.1:p.Lys185PhefsTer4
ENST00000697383.1:c.49-5833_49-5830del	ENSP00000513289.1:n.49-5833_49-5830del
ENST00000697384.1:n.1592_1595del
ENST00000261584.9:c.1438_1441del MANE Select	ENSP00000261584.4:p.Lys480PhefsTer4
ENST00000261584.8:c.1438_1441del	ENSP00000261584.4:p.Lys480PhefsTer4
ENST00000565038.1:c.86+2742_86+2745del
ENST00000568219.5:c.553_556del	ENSP00000454703.2:p.Lys185PhefsTer4
NM_024675.3:c.1438_1441del , LRG_308t1:c.1438_1441del	NP_078951.2:p.Lys480PhefsTer4
XM_011545946.1:c.1444_1447del	XP_011544248.1:p.Lys482PhefsTer4
XM_011545947.1:c.1444_1447del	XP_011544249.1:p.Lys482PhefsTer4
XM_011545948.1:c.553_556del	XP_011544250.1:p.Lys185PhefsTer4
XR_950851.1:n.2234_2237del
XM_011545946.2:c.1444_1447del	XP_011544248.1:p.Lys482PhefsTer4
XM_011545947.2:c.1444_1447del	XP_011544249.1:p.Lys482PhefsTer4
XM_011545948.2:c.553_556del	XP_011544250.1:p.Lys185PhefsTer4
XM_017023671.1:c.1444_1447del	XP_016879160.1:p.Lys482PhefsTer4
XM_017023672.2:c.1438_1441del	XP_016879161.1:p.Lys480PhefsTer4
XM_017023673.2:c.1438_1441del	XP_016879162.1:p.Lys480PhefsTer4
NM_024675.4:c.1438_1441del MANE Select	NP_078951.2:p.Lys480PhefsTer4