Canonical Allele Identifier: CA2573152174

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1440279
• ClinVar RCV Id: RCV001936842
• dbSNP Id: rs2142344237

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624073del , CM000678.2:g.23624073del	GRCh38
NC_000016.9:g.23635394del , CM000678.1:g.23635394del	GRCh37
NC_000016.8:g.23542895del	NCBI36
NG_007406.1:g.22286del , LRG_308:g.22286del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2777del	ENSP00000460666.3:p.Pro926GlnfsTer11
ENST00000565038.2:c.*252del	ENSP00000459882.2:n.*252del
ENST00000566069.6:c.2771del	ENSP00000459237.2:p.Pro924GlnfsTer11
ENST00000697377.2:c.2615del	ENSP00000513286.2:p.Pro872GlnfsTer11
ENST00000697379.2:c.2777del	ENSP00000513287.2:p.Pro926GlnfsTer11
ENST00000561514.2:c.1886del	ENSP00000460666.2:p.Pro629GlnfsTer11
ENST00000697374.1:c.1886del	ENSP00000513284.1:p.Pro629GlnfsTer11
ENST00000697375.1:n.4118del
ENST00000697376.1:c.1886del	ENSP00000513285.1:p.Pro629GlnfsTer11
ENST00000697377.1:c.1724del	ENSP00000513286.1:p.Pro575GlnfsTer11
ENST00000697378.1:n.3291del
ENST00000697379.1:c.1886del	ENSP00000513287.1:p.Pro629GlnfsTer11
ENST00000697380.1:n.2063del
ENST00000697381.1:n.1466del
ENST00000697382.1:c.1886del	ENSP00000513288.1:p.Pro629GlnfsTer11
ENST00000697383.1:c.305del	ENSP00000513289.1:p.Pro102GlnfsTer11
ENST00000261584.9:c.2771del MANE Select	ENSP00000261584.4:p.Pro924GlnfsTer11
ENST00000261584.8:c.2771del	ENSP00000261584.4:p.Pro924GlnfsTer11
ENST00000565038.1:c.343del
ENST00000568219.5:c.1886del	ENSP00000454703.2:p.Pro629GlnfsTer11
NM_024675.3:c.2771del , LRG_308t1:c.2771del	NP_078951.2:p.Pro924GlnfsTer11
XM_011545946.1:c.2777del	XP_011544248.1:p.Pro926GlnfsTer11
XM_011545947.1:c.2777del	XP_011544249.1:p.Pro926GlnfsTer11
XM_011545948.1:c.1886del	XP_011544250.1:p.Pro629GlnfsTer11
XR_950851.1:n.3567del
XM_011545946.2:c.2777del	XP_011544248.1:p.Pro926GlnfsTer11
XM_011545947.2:c.2777del	XP_011544249.1:p.Pro926GlnfsTer11
XM_011545948.2:c.1886del	XP_011544250.1:p.Pro629GlnfsTer11
XM_017023671.1:c.2777del	XP_016879160.1:p.Pro926GlnfsTer11
XM_017023672.2:c.2771del	XP_016879161.1:p.Pro924GlnfsTer11
XM_017023673.2:c.2771del	XP_016879162.1:p.Pro924GlnfsTer11
NM_024675.4:c.2771del MANE Select	NP_078951.2:p.Pro924GlnfsTer11