Canonical Allele Identifier: CA10584519

Gene: PALB2

Linked Data

• ClinVar Variation Id: 245813
• ClinVar RCV Id: RCV001854854
• dbSNP Id: rs879253960
• gnomAD v4: 16-23635077-GGA-G
• MyVariant Identifiers: chr16:g.23646399_23646400del (hg19) ; chr16:g.23635078_23635079del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635081_23635082del , CM000678.2:g.23635081_23635082del	GRCh38
NC_000016.9:g.23646402_23646403del , CM000678.1:g.23646402_23646403del	GRCh37
NC_000016.8:g.23553903_23553904del	NCBI36
NG_007406.1:g.11279_11280del , LRG_308:g.11279_11280del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1473_1474del	ENSP00000460666.3:p.Pro492ArgfsTer5
ENST00000565038.2:c.211+2771_211+2772del	ENSP00000459882.2:n.211+2771_211+2772del
ENST00000566069.6:c.1467_1468del	ENSP00000459237.2:p.Pro490ArgfsTer5
ENST00000697377.2:c.1473_1474del	ENSP00000513286.2:p.Pro492ArgfsTer5
ENST00000697379.2:c.1473_1474del	ENSP00000513287.2:p.Pro492ArgfsTer5
ENST00000561514.2:c.582_583del	ENSP00000460666.2:p.Pro195ArgfsTer5
ENST00000697374.1:c.582_583del	ENSP00000513284.1:p.Pro195ArgfsTer5
ENST00000697375.1:n.2814_2815del
ENST00000697376.1:c.582_583del	ENSP00000513285.1:p.Pro195ArgfsTer5
ENST00000697377.1:c.582_583del	ENSP00000513286.1:p.Pro195ArgfsTer5
ENST00000697378.1:n.1987_1988del
ENST00000697379.1:c.582_583del	ENSP00000513287.1:p.Pro195ArgfsTer5
ENST00000697382.1:c.582_583del	ENSP00000513288.1:p.Pro195ArgfsTer5
ENST00000697383.1:c.49-5804_49-5803del	ENSP00000513289.1:n.49-5804_49-5803del
ENST00000697384.1:n.1621_1622del
ENST00000261584.9:c.1467_1468del MANE Select	ENSP00000261584.4:p.Pro490ArgfsTer5
ENST00000261584.8:c.1467_1468del	ENSP00000261584.4:p.Pro490ArgfsTer5
ENST00000565038.1:c.86+2771_86+2772del
ENST00000568219.5:c.582_583del	ENSP00000454703.2:p.Pro195ArgfsTer5
NM_024675.3:c.1467_1468del , LRG_308t1:c.1467_1468del	NP_078951.2:p.Pro490ArgfsTer5
XM_011545946.1:c.1473_1474del	XP_011544248.1:p.Pro492ArgfsTer5
XM_011545947.1:c.1473_1474del	XP_011544249.1:p.Pro492ArgfsTer5
XM_011545948.1:c.582_583del	XP_011544250.1:p.Pro195ArgfsTer5
XR_950851.1:n.2263_2264del
XM_011545946.2:c.1473_1474del	XP_011544248.1:p.Pro492ArgfsTer5
XM_011545947.2:c.1473_1474del	XP_011544249.1:p.Pro492ArgfsTer5
XM_011545948.2:c.582_583del	XP_011544250.1:p.Pro195ArgfsTer5
XM_017023671.1:c.1473_1474del	XP_016879160.1:p.Pro492ArgfsTer5
XM_017023672.2:c.1467_1468del	XP_016879161.1:p.Pro490ArgfsTer5
XM_017023673.2:c.1467_1468del	XP_016879162.1:p.Pro490ArgfsTer5
NM_024675.4:c.1467_1468del MANE Select	NP_078951.2:p.Pro490ArgfsTer5