Canonical Allele Identifier: CA7963813

Gene: PALB2

Linked Data

• ClinVar Variation Id: 372017
• ClinVar RCV Id: RCV000410697 ; RCV000583383 ; RCV000679763 ; RCV002502438
• dbSNP Id: rs751741705
• ExAC: 16:23647673 G / GTA
• gnomAD v2: 16-23647673-G-GTA
• gnomAD v3: 16-23636352-G-GTA
• gnomAD v4: 16-23636352-G-GTA
• MyVariant Identifiers: chr16:g.23647674_23647675dupTA (hg19) ; chr16:g.23647673_23647674insTA (hg19) ; chr16:g.23636353_23636354dupTA (hg38) ; chr16:g.23636352_23636353insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636357_23636358dup , CM000678.2:g.23636357_23636358dup	GRCh38
NC_000016.9:g.23647678_23647679dup , CM000678.1:g.23647678_23647679dup	GRCh37
NC_000016.8:g.23555179_23555180dup	NCBI36
NG_007406.1:g.10004_10005dup , LRG_308:g.10004_10005dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.218-20_218-19dup	ENSP00000460666.3:n.218-20_218-19dup
ENST00000565038.2:c.211+1496_211+1497dup	ENSP00000459882.2:n.211+1496_211+1497dup
ENST00000566069.6:c.212-20_212-19dup	ENSP00000459237.2:n.212-20_212-19dup
ENST00000697377.2:c.218-20_218-19dup	ENSP00000513286.2:n.218-20_218-19dup
ENST00000697379.2:c.218-20_218-19dup	ENSP00000513287.2:n.218-20_218-19dup
ENST00000561514.2:c.-674-20_-674-19dup	ENSP00000460666.2:n.-674-20_-674-19dup
ENST00000697374.1:c.-674-20_-674-19dup	ENSP00000513284.1:n.-674-20_-674-19dup
ENST00000697375.1:n.1559-20_1559-19dup
ENST00000697376.1:c.-674-20_-674-19dup	ENSP00000513285.1:n.-674-20_-674-19dup
ENST00000697377.1:c.-674-20_-674-19dup	ENSP00000513286.1:n.-674-20_-674-19dup
ENST00000697378.1:n.732-20_732-19dup
ENST00000697379.1:c.-674-20_-674-19dup	ENSP00000513287.1:n.-674-20_-674-19dup
ENST00000697382.1:c.-674-20_-674-19dup	ENSP00000513288.1:n.-674-20_-674-19dup
ENST00000697383.1:c.48+4756_48+4757dup	ENSP00000513289.1:n.48+4756_48+4757dup
ENST00000697384.1:n.366-20_366-19dup
ENST00000261584.9:c.212-20_212-19dup MANE Select	ENSP00000261584.4:n.212-20_212-19dup
ENST00000261584.8:c.212-20_212-19dup	ENSP00000261584.4:n.212-20_212-19dup
ENST00000561514.1:c.218-20_218-19dup	ENSP00000460666.1:n.218-20_218-19dup
ENST00000565038.1:c.86+1496_86+1497dup
ENST00000567003.1:n.490-20_490-19dup
ENST00000568219.5:c.-674-20_-674-19dup	ENSP00000454703.2:n.-674-20_-674-19dup
NM_024675.3:c.212-20_212-19dup , LRG_308t1:c.212-20_212-19dup	NP_078951.2:n.212-20_212-19dup
XM_011545946.1:c.218-20_218-19dup	XP_011544248.1:n.218-20_218-19dup
XM_011545947.1:c.218-20_218-19dup	XP_011544249.1:n.218-20_218-19dup
XM_011545948.1:c.-674-20_-674-19dup	XP_011544250.1:n.-674-20_-674-19dup
XR_950851.1:n.1008-20_1008-19dup
XM_011545946.2:c.218-20_218-19dup	XP_011544248.1:n.218-20_218-19dup
XM_011545947.2:c.218-20_218-19dup	XP_011544249.1:n.218-20_218-19dup
XM_011545948.2:c.-674-20_-674-19dup	XP_011544250.1:n.-674-20_-674-19dup
XM_017023671.1:c.218-20_218-19dup	XP_016879160.1:n.218-20_218-19dup
XM_017023672.2:c.212-20_212-19dup	XP_016879161.1:n.212-20_212-19dup
XM_017023673.2:c.212-20_212-19dup	XP_016879162.1:n.212-20_212-19dup
NM_024675.4:c.212-20_212-19dup MANE Select	NP_078951.2:n.212-20_212-19dup