Canonical Allele Identifier: CA891843572

Gene: PALB2

Linked Data

• ClinVar Variation Id: 580775
• ClinVar RCV Id: RCV000704420 ; RCV001019756
• dbSNP Id: rs1567206813
• MyVariant Identifiers: chr16:g.23619234_23619238del (hg19) ; chr16:g.23607913_23607917del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607914_23607918del , CM000678.2:g.23607914_23607918del	GRCh38
NC_000016.9:g.23619235_23619239del , CM000678.1:g.23619235_23619239del	GRCh37
NC_000016.8:g.23526736_23526740del	NCBI36
NG_007406.1:g.38441_38445del , LRG_308:g.38441_38445del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3303_3307del	ENSP00000460666.3:p.Thr1102GlnfsTer21
ENST00000565038.2:c.*778_*782del	ENSP00000459882.2:n.*778_*782del
ENST00000566069.6:c.3202-4248_3202-4244del	ENSP00000459237.2:n.3202-4248_3202-4244de...
ENST00000697377.2:c.3141_3145del	ENSP00000513286.2:p.Thr1048GlnfsTer21
ENST00000697379.2:c.3303_3307del	ENSP00000513287.2:p.Thr1102GlnfsTer21
ENST00000561514.2:c.2412_2416del	ENSP00000460666.2:p.Thr805GlnfsTer21
ENST00000697374.1:c.2412_2416del	ENSP00000513284.1:p.Thr805GlnfsTer21
ENST00000697375.1:n.4644_4648del
ENST00000697376.1:c.2317-4248_2317-4244del	ENSP00000513285.1:n.2317-4248_2317-4244de...
ENST00000697377.1:c.2250_2254del	ENSP00000513286.1:p.Thr751GlnfsTer21
ENST00000697378.1:n.3817_3821del
ENST00000697379.1:c.2412_2416del	ENSP00000513287.1:p.Thr805GlnfsTer21
ENST00000697380.1:n.2501_2505del
ENST00000697381.1:n.1992_1996del
ENST00000697382.1:c.*74_*78del	ENSP00000513288.1:n.*74_*78del
ENST00000697383.1:c.831_835del	ENSP00000513289.1:p.Thr278GlnfsTer21
ENST00000261584.9:c.3297_3301del MANE Select	ENSP00000261584.4:p.Thr1100GlnfsTer21
ENST00000261584.8:c.3297_3301del	ENSP00000261584.4:p.Thr1100GlnfsTer21
ENST00000566069.5:c.117-4248_117-4244del
ENST00000568219.5:c.2412_2416del	ENSP00000454703.2:p.Thr805GlnfsTer21
NM_024675.3:c.3297_3301del , LRG_308t1:c.3297_3301del	NP_078951.2:p.Thr1100GlnfsTer21
XM_011545946.1:c.3303_3307del	XP_011544248.1:p.Thr1102GlnfsTer21
XM_011545947.1:c.3208-4248_3208-4244del	XP_011544249.1:n.3208-4248_3208-4244del
XM_011545948.1:c.2412_2416del	XP_011544250.1:p.Thr805GlnfsTer21
XR_950851.1:n.4005_4009del
XM_011545946.2:c.3303_3307del	XP_011544248.1:p.Thr1102GlnfsTer21
XM_011545947.2:c.3208-4248_3208-4244del	XP_011544249.1:n.3208-4248_3208-4244del
XM_011545948.2:c.2412_2416del	XP_011544250.1:p.Thr805GlnfsTer21
XM_017023671.1:c.3120-4248_3120-4244del	XP_016879160.1:n.3120-4248_3120-4244del
XM_017023672.2:c.3114-4248_3114-4244del	XP_016879161.1:n.3114-4248_3114-4244del
XM_017023673.2:c.3202-4248_3202-4244del	XP_016879162.1:n.3202-4248_3202-4244del
NM_024675.4:c.3297_3301del MANE Select	NP_078951.2:p.Thr1100GlnfsTer21