Canonical Allele Identifier: CA658658408

Gene: PALB2

Linked Data

• ClinVar Variation Id: 480246
• ClinVar RCV Id: RCV000572411
• dbSNP Id: rs1555460463
• MyVariant Identifiers: chr16:g.23641299_23641300del (hg19) ; chr16:g.23629978_23629979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629979_23629980del , CM000678.2:g.23629979_23629980del	GRCh38
NC_000016.9:g.23641300_23641301del , CM000678.1:g.23641300_23641301del	GRCh37
NC_000016.8:g.23548801_23548802del	NCBI36
NG_007406.1:g.16379_16380del , LRG_308:g.16379_16380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2181_2182del	ENSP00000460666.3:p.Pro728CysfsTer18
ENST00000565038.2:c.212-704_212-703del	ENSP00000459882.2:n.212-704_212-703del
ENST00000566069.6:c.2175_2176del	ENSP00000459237.2:p.Pro726CysfsTer18
ENST00000697377.2:c.2181_2182del	ENSP00000513286.2:p.Pro728CysfsTer18
ENST00000697379.2:c.2181_2182del	ENSP00000513287.2:p.Pro728CysfsTer18
ENST00000561514.2:c.1290_1291del	ENSP00000460666.2:p.Pro431CysfsTer18
ENST00000697374.1:c.1290_1291del	ENSP00000513284.1:p.Pro431CysfsTer18
ENST00000697375.1:n.3522_3523del
ENST00000697376.1:c.1290_1291del	ENSP00000513285.1:p.Pro431CysfsTer18
ENST00000697377.1:c.1290_1291del	ENSP00000513286.1:p.Pro431CysfsTer18
ENST00000697378.1:n.2695_2696del
ENST00000697379.1:c.1290_1291del	ENSP00000513287.1:p.Pro431CysfsTer18
ENST00000697380.1:n.1103_1104del
ENST00000697381.1:n.870_871del
ENST00000697382.1:c.1290_1291del	ENSP00000513288.1:p.Pro431CysfsTer18
ENST00000697383.1:c.49-704_49-703del	ENSP00000513289.1:n.49-704_49-703del
ENST00000697384.1:n.2329_2330del
ENST00000261584.9:c.2175_2176del MANE Select	ENSP00000261584.4:p.Pro726CysfsTer18
ENST00000261584.8:c.2175_2176del	ENSP00000261584.4:p.Pro726CysfsTer18
ENST00000565038.1:c.87-704_87-703del
ENST00000568219.5:c.1290_1291del	ENSP00000454703.2:p.Pro431CysfsTer18
NM_024675.3:c.2175_2176del , LRG_308t1:c.2175_2176del	NP_078951.2:p.Pro726CysfsTer18
XM_011545946.1:c.2181_2182del	XP_011544248.1:p.Pro728CysfsTer18
XM_011545947.1:c.2181_2182del	XP_011544249.1:p.Pro728CysfsTer18
XM_011545948.1:c.1290_1291del	XP_011544250.1:p.Pro431CysfsTer18
XR_950851.1:n.2971_2972del
XM_011545946.2:c.2181_2182del	XP_011544248.1:p.Pro728CysfsTer18
XM_011545947.2:c.2181_2182del	XP_011544249.1:p.Pro728CysfsTer18
XM_011545948.2:c.1290_1291del	XP_011544250.1:p.Pro431CysfsTer18
XM_017023671.1:c.2181_2182del	XP_016879160.1:p.Pro728CysfsTer18
XM_017023672.2:c.2175_2176del	XP_016879161.1:p.Pro726CysfsTer18
XM_017023673.2:c.2175_2176del	XP_016879162.1:p.Pro726CysfsTer18
NM_024675.4:c.2175_2176del MANE Select	NP_078951.2:p.Pro726CysfsTer18