Canonical Allele Identifier: CA2213428809

Gene: PALB2

Linked Data

• ClinVar Variation Id: 947147
• ClinVar RCV Id: RCV001218153
• dbSNP Id: rs1966507561

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607918_23607920del , CM000678.2:g.23607918_23607920del	GRCh38
NC_000016.9:g.23619239_23619241del , CM000678.1:g.23619239_23619241del	GRCh37
NC_000016.8:g.23526740_23526742del	NCBI36
NG_007406.1:g.38441_38443del , LRG_308:g.38441_38443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3303_3305del	ENSP00000460666.3:p.Thr1102del
ENST00000565038.2:c.*778_*780del	ENSP00000459882.2:n.*778_*780del
ENST00000566069.6:c.3202-4248_3202-4246del	ENSP00000459237.2:n.3202-4248_3202-4246del
ENST00000697377.2:c.3141_3143del	ENSP00000513286.2:p.Thr1048del
ENST00000697379.2:c.3303_3305del	ENSP00000513287.2:p.Thr1102del
ENST00000561514.2:c.2412_2414del	ENSP00000460666.2:p.Thr805del
ENST00000697374.1:c.2412_2414del	ENSP00000513284.1:p.Thr805del
ENST00000697375.1:n.4644_4646del
ENST00000697376.1:c.2317-4248_2317-4246del	ENSP00000513285.1:n.2317-4248_2317-4246del
ENST00000697377.1:c.2250_2252del	ENSP00000513286.1:p.Thr751del
ENST00000697378.1:n.3817_3819del
ENST00000697379.1:c.2412_2414del	ENSP00000513287.1:p.Thr805del
ENST00000697380.1:n.2501_2503del
ENST00000697381.1:n.1992_1994del
ENST00000697382.1:c.*74_*76del	ENSP00000513288.1:n.*74_*76del
ENST00000697383.1:c.831_833del	ENSP00000513289.1:p.Thr278del
ENST00000261584.9:c.3297_3299del MANE Select	ENSP00000261584.4:p.Thr1100del
ENST00000261584.8:c.3297_3299del	ENSP00000261584.4:p.Thr1100del
ENST00000566069.5:c.117-4248_117-4246del
ENST00000568219.5:c.2412_2414del	ENSP00000454703.2:p.Thr805del
NM_024675.3:c.3297_3299del , LRG_308t1:c.3297_3299del	NP_078951.2:p.Thr1100del
XM_011545946.1:c.3303_3305del	XP_011544248.1:p.Thr1102del
XM_011545947.1:c.3208-4248_3208-4246del	XP_011544249.1:n.3208-4248_3208-4246del
XM_011545948.1:c.2412_2414del	XP_011544250.1:p.Thr805del
XR_950851.1:n.4005_4007del
XM_011545946.2:c.3303_3305del	XP_011544248.1:p.Thr1102del
XM_011545947.2:c.3208-4248_3208-4246del	XP_011544249.1:n.3208-4248_3208-4246del
XM_011545948.2:c.2412_2414del	XP_011544250.1:p.Thr805del
XM_017023671.1:c.3120-4248_3120-4246del	XP_016879160.1:n.3120-4248_3120-4246del
XM_017023672.2:c.3114-4248_3114-4246del	XP_016879161.1:n.3114-4248_3114-4246del
XM_017023673.2:c.3202-4248_3202-4246del	XP_016879162.1:n.3202-4248_3202-4246del
NM_024675.4:c.3297_3299del MANE Select	NP_078951.2:p.Thr1100del