Canonical Allele Identifier: CA891844514

Gene: PALB2

Linked Data

• ClinVar Variation Id: 566490
• ClinVar RCV Id: RCV000686314 ; RCV002440423
• dbSNP Id: rs1567213797
• MyVariant Identifiers: chr16:g.23634403_23634405del (hg19) ; chr16:g.23623082_23623084del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623082_23623084del , CM000678.2:g.23623082_23623084del	GRCh38
NC_000016.9:g.23634403_23634405del , CM000678.1:g.23634403_23634405del	GRCh37
NC_000016.8:g.23541904_23541906del	NCBI36
NG_007406.1:g.23274_23276del , LRG_308:g.23274_23276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2887_2889del	ENSP00000460666.3:p.Leu963del
ENST00000565038.2:c.*362_*364del	ENSP00000459882.2:n.*362_*364del
ENST00000566069.6:c.2881_2883del	ENSP00000459237.2:p.Leu961del
ENST00000697377.2:c.2725_2727del	ENSP00000513286.2:p.Leu909del
ENST00000697379.2:c.2887_2889del	ENSP00000513287.2:p.Leu963del
ENST00000561514.2:c.1996_1998del	ENSP00000460666.2:p.Leu666del
ENST00000697374.1:c.1996_1998del	ENSP00000513284.1:p.Leu666del
ENST00000697375.1:n.4228_4230del
ENST00000697376.1:c.1996_1998del	ENSP00000513285.1:p.Leu666del
ENST00000697377.1:c.1834_1836del	ENSP00000513286.1:p.Leu612del
ENST00000697378.1:n.3401_3403del
ENST00000697379.1:c.1996_1998del	ENSP00000513287.1:p.Leu666del
ENST00000697380.1:n.2173_2175del
ENST00000697381.1:n.1576_1578del
ENST00000697382.1:c.1996_1998del	ENSP00000513288.1:p.Leu666del
ENST00000697383.1:c.415_417del	ENSP00000513289.1:p.Leu139del
ENST00000261584.9:c.2881_2883del MANE Select	ENSP00000261584.4:p.Leu961del
ENST00000261584.8:c.2881_2883del	ENSP00000261584.4:p.Leu961del
ENST00000568219.5:c.1996_1998del	ENSP00000454703.2:p.Leu666del
NM_024675.3:c.2881_2883del , LRG_308t1:c.2881_2883del	NP_078951.2:p.Leu961del
XM_011545946.1:c.2887_2889del	XP_011544248.1:p.Leu963del
XM_011545947.1:c.2887_2889del	XP_011544249.1:p.Leu963del
XM_011545948.1:c.1996_1998del	XP_011544250.1:p.Leu666del
XR_950851.1:n.3677_3679del
XM_011545946.2:c.2887_2889del	XP_011544248.1:p.Leu963del
XM_011545947.2:c.2887_2889del	XP_011544249.1:p.Leu963del
XM_011545948.2:c.1996_1998del	XP_011544250.1:p.Leu666del
XM_017023671.1:c.2887_2889del	XP_016879160.1:p.Leu963del
XM_017023672.2:c.2881_2883del	XP_016879161.1:p.Leu961del
XM_017023673.2:c.2881_2883del	XP_016879162.1:p.Leu961del
NM_024675.4:c.2881_2883del MANE Select	NP_078951.2:p.Leu961del