Canonical Allele Identifier: CA645509221

Gene: PALB2

Linked Data

• ClinVar Variation Id: 430595
• ClinVar RCV Id: RCV000504613 ; RCV000701403 ; RCV001008183 ; RCV001015644 ; RCV003159604
• dbSNP Id: rs1555460315
• MyVariant Identifiers: chr16:g.23640994_23640995del (hg19) ; chr16:g.23629673_23629674del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629676_23629677del , CM000678.2:g.23629676_23629677del	GRCh38
NC_000016.9:g.23640997_23640998del , CM000678.1:g.23640997_23640998del	GRCh37
NC_000016.8:g.23548498_23548499del	NCBI36
NG_007406.1:g.16684_16685del , LRG_308:g.16684_16685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2486_2487del	ENSP00000460666.3:p.Thr829MetfsTer6
ENST00000565038.2:c.212-399_212-398del	ENSP00000459882.2:n.212-399_212-398del
ENST00000566069.6:c.2480_2481del	ENSP00000459237.2:p.Thr827MetfsTer6
ENST00000697377.2:c.2486_2487del	ENSP00000513286.2:p.Thr829MetfsTer6
ENST00000697379.2:c.2486_2487del	ENSP00000513287.2:p.Thr829MetfsTer6
ENST00000561514.2:c.1595_1596del	ENSP00000460666.2:p.Thr532MetfsTer6
ENST00000697374.1:c.1595_1596del	ENSP00000513284.1:p.Thr532MetfsTer6
ENST00000697375.1:n.3827_3828del
ENST00000697376.1:c.1595_1596del	ENSP00000513285.1:p.Thr532MetfsTer6
ENST00000697377.1:c.1595_1596del	ENSP00000513286.1:p.Thr532MetfsTer6
ENST00000697378.1:n.3000_3001del
ENST00000697379.1:c.1595_1596del	ENSP00000513287.1:p.Thr532MetfsTer6
ENST00000697380.1:n.1408_1409del
ENST00000697381.1:n.1175_1176del
ENST00000697382.1:c.1595_1596del	ENSP00000513288.1:p.Thr532MetfsTer6
ENST00000697383.1:c.49-399_49-398del	ENSP00000513289.1:n.49-399_49-398del
ENST00000697384.1:n.2634_2635del
ENST00000261584.9:c.2480_2481del MANE Select	ENSP00000261584.4:p.Thr827MetfsTer6
ENST00000261584.8:c.2480_2481del	ENSP00000261584.4:p.Thr827MetfsTer6
ENST00000565038.1:c.87-399_87-398del
ENST00000568219.5:c.1595_1596del	ENSP00000454703.2:p.Thr532MetfsTer6
NM_024675.3:c.2480_2481del , LRG_308t1:c.2480_2481del	NP_078951.2:p.Thr827MetfsTer6
XM_011545946.1:c.2486_2487del	XP_011544248.1:p.Thr829MetfsTer6
XM_011545947.1:c.2486_2487del	XP_011544249.1:p.Thr829MetfsTer6
XM_011545948.1:c.1595_1596del	XP_011544250.1:p.Thr532MetfsTer6
XR_950851.1:n.3276_3277del
XM_011545946.2:c.2486_2487del	XP_011544248.1:p.Thr829MetfsTer6
XM_011545947.2:c.2486_2487del	XP_011544249.1:p.Thr829MetfsTer6
XM_011545948.2:c.1595_1596del	XP_011544250.1:p.Thr532MetfsTer6
XM_017023671.1:c.2486_2487del	XP_016879160.1:p.Thr829MetfsTer6
XM_017023672.2:c.2480_2481del	XP_016879161.1:p.Thr827MetfsTer6
XM_017023673.2:c.2480_2481del	XP_016879162.1:p.Thr827MetfsTer6
NM_024675.4:c.2480_2481del MANE Select	NP_078951.2:p.Thr827MetfsTer6