Canonical Allele Identifier: CA913190540

Gene: PALB2

Linked Data

• ClinVar Variation Id: 619710
• ClinVar RCV Id: RCV000759190 ; RCV001472512
• dbSNP Id: rs1311681895
• gnomAD v4: 16-23641100-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641100C>T , CM000678.2:g.23641100C>T	GRCh38
NC_000016.9:g.23652421C>T , CM000678.1:g.23652421C>T	GRCh37
NC_000016.8:g.23559922C>T	NCBI36
NG_007406.1:g.5258G>A , LRG_308:g.5258G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-795G>A	ENSP00000460666.3:n.-795G>A
ENST00000565038.2:c.48+10G>A	ENSP00000459882.2:n.48+10G>A
ENST00000566069.6:c.48+10G>A	ENSP00000459237.2:n.48+10G>A
ENST00000697377.2:c.-192+10G>A	ENSP00000513286.2:n.-192+10G>A
ENST00000697379.2:c.-98+10G>A	ENSP00000513287.2:n.-98+10G>A
ENST00000561514.2:c.-1686G>A	ENSP00000460666.2:n.-1686G>A
ENST00000697374.1:c.-1277G>A	ENSP00000513284.1:n.-1277G>A
ENST00000697376.1:c.-1008+10G>A	ENSP00000513285.1:n.-1008+10G>A
ENST00000697377.1:c.-1083+10G>A	ENSP00000513286.1:n.-1083+10G>A
ENST00000697379.1:c.-989+10G>A	ENSP00000513287.1:n.-989+10G>A
ENST00000697382.1:c.-1737G>A	ENSP00000513288.1:n.-1737G>A
ENST00000697383.1:c.48+10G>A	ENSP00000513289.1:n.48+10G>A
ENST00000697384.1:n.202+10G>A
ENST00000261584.9:c.48+10G>A MANE Select	ENSP00000261584.4:n.48+10G>A
ENST00000261584.8:c.48+10G>A	ENSP00000261584.4:n.48+10G>A
ENST00000567003.1:n.192+10G>A
ENST00000568219.5:c.-838+27G>A	ENSP00000454703.2:n.-838+27G>A
NM_024675.3:c.48+10G>A , LRG_308t1:c.48+10G>A	NP_078951.2:n.48+10G>A
XM_011545948.1:c.-972+10G>A	XP_011544250.1:n.-972+10G>A
XM_011545946.2:c.-795G>A	XP_011544248.1:n.-795G>A
XM_011545947.2:c.-795G>A	XP_011544249.1:n.-795G>A
XM_011545948.2:c.-972+10G>A	XP_011544250.1:n.-972+10G>A
XM_017023671.1:c.-795G>A	XP_016879160.1:n.-795G>A
XM_017023672.2:c.48+10G>A	XP_016879161.1:n.48+10G>A
XM_017023673.2:c.48+10G>A	XP_016879162.1:n.48+10G>A
NM_024675.4:c.48+10G>A MANE Select	NP_078951.2:n.48+10G>A