Canonical Allele Identifier: CA658658411

Gene: PALB2

Linked Data

• ClinVar Variation Id: 484175
• ClinVar RCV Id: RCV000570879 ; RCV001359579
• dbSNP Id: rs1555460530
• MyVariant Identifiers: chr16:g.23641474_23641476dup (hg19) ; chr16:g.23630153_23630155dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630154_23630156dup , CM000678.2:g.23630154_23630156dup	GRCh38
NC_000016.9:g.23641475_23641477dup , CM000678.1:g.23641475_23641477dup	GRCh37
NC_000016.8:g.23548976_23548978dup	NCBI36
NG_007406.1:g.16203_16205dup , LRG_308:g.16203_16205dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2005_2007dup	ENSP00000460666.3:p.Glu669_Met670insGlu
ENST00000565038.2:c.212-880_212-878dup	ENSP00000459882.2:n.212-880_212-878dup
ENST00000566069.6:c.1999_2001dup	ENSP00000459237.2:p.Glu667_Met668insGlu
ENST00000697377.2:c.2005_2007dup	ENSP00000513286.2:p.Glu669_Met670insGlu
ENST00000697379.2:c.2005_2007dup	ENSP00000513287.2:p.Glu669_Met670insGlu
ENST00000561514.2:c.1114_1116dup	ENSP00000460666.2:p.Glu372_Met373insGlu
ENST00000697374.1:c.1114_1116dup	ENSP00000513284.1:p.Glu372_Met373insGlu
ENST00000697375.1:n.3346_3348dup
ENST00000697376.1:c.1114_1116dup	ENSP00000513285.1:p.Glu372_Met373insGlu
ENST00000697377.1:c.1114_1116dup	ENSP00000513286.1:p.Glu372_Met373insGlu
ENST00000697378.1:n.2519_2521dup
ENST00000697379.1:c.1114_1116dup	ENSP00000513287.1:p.Glu372_Met373insGlu
ENST00000697380.1:n.927_929dup
ENST00000697381.1:n.694_696dup
ENST00000697382.1:c.1114_1116dup	ENSP00000513288.1:p.Glu372_Met373insGlu
ENST00000697383.1:c.49-880_49-878dup	ENSP00000513289.1:n.49-880_49-878dup
ENST00000697384.1:n.2153_2155dup
ENST00000261584.9:c.1999_2001dup MANE Select	ENSP00000261584.4:p.Glu667_Met668insGlu
ENST00000261584.8:c.1999_2001dup	ENSP00000261584.4:p.Glu667_Met668insGlu
ENST00000565038.1:c.87-880_87-878dup
ENST00000568219.5:c.1114_1116dup	ENSP00000454703.2:p.Glu372_Met373insGlu
NM_024675.3:c.1999_2001dup , LRG_308t1:c.1999_2001dup	NP_078951.2:p.Glu667_Met668insGlu
XM_011545946.1:c.2005_2007dup	XP_011544248.1:p.Glu669_Met670insGlu
XM_011545947.1:c.2005_2007dup	XP_011544249.1:p.Glu669_Met670insGlu
XM_011545948.1:c.1114_1116dup	XP_011544250.1:p.Glu372_Met373insGlu
XR_950851.1:n.2795_2797dup
XM_011545946.2:c.2005_2007dup	XP_011544248.1:p.Glu669_Met670insGlu
XM_011545947.2:c.2005_2007dup	XP_011544249.1:p.Glu669_Met670insGlu
XM_011545948.2:c.1114_1116dup	XP_011544250.1:p.Glu372_Met373insGlu
XM_017023671.1:c.2005_2007dup	XP_016879160.1:p.Glu669_Met670insGlu
XM_017023672.2:c.1999_2001dup	XP_016879161.1:p.Glu667_Met668insGlu
XM_017023673.2:c.1999_2001dup	XP_016879162.1:p.Glu667_Met668insGlu
NM_024675.4:c.1999_2001dup MANE Select	NP_078951.2:p.Glu667_Met668insGlu