Canonical Allele Identifier: CA913190441

Gene: PALB2

Linked Data

• ClinVar Variation Id: 619884
• ClinVar RCV Id: RCV000759895 ; RCV001012123
• dbSNP Id: rs1567220758

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23634994_23634995del , CM000678.2:g.23634994_23634995del	GRCh38
NC_000016.9:g.23646315_23646316del , CM000678.1:g.23646315_23646316del	GRCh37
NC_000016.8:g.23553816_23553817del	NCBI36
NG_007406.1:g.11363_11364del , LRG_308:g.11363_11364del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.1557_1558del	ENSP00000460666.3:p.Lys519AsnfsTer11
ENST00000565038.2:c.211+2855_211+2856del	ENSP00000459882.2:n.211+2855_211+2856del
ENST00000566069.6:c.1551_1552del	ENSP00000459237.2:p.Lys517AsnfsTer11
ENST00000697377.2:c.1557_1558del	ENSP00000513286.2:p.Lys519AsnfsTer11
ENST00000697379.2:c.1557_1558del	ENSP00000513287.2:p.Lys519AsnfsTer11
ENST00000561514.2:c.666_667del	ENSP00000460666.2:p.Lys222AsnfsTer11
ENST00000697374.1:c.666_667del	ENSP00000513284.1:p.Lys222AsnfsTer11
ENST00000697375.1:n.2898_2899del
ENST00000697376.1:c.666_667del	ENSP00000513285.1:p.Lys222AsnfsTer11
ENST00000697377.1:c.666_667del	ENSP00000513286.1:p.Lys222AsnfsTer11
ENST00000697378.1:n.2071_2072del
ENST00000697379.1:c.666_667del	ENSP00000513287.1:p.Lys222AsnfsTer11
ENST00000697382.1:c.666_667del	ENSP00000513288.1:p.Lys222AsnfsTer11
ENST00000697383.1:c.49-5720_49-5719del	ENSP00000513289.1:n.49-5720_49-5719del
ENST00000697384.1:n.1705_1706del
ENST00000261584.9:c.1551_1552del MANE Select	ENSP00000261584.4:p.Lys517AsnfsTer11
ENST00000261584.8:c.1551_1552del	ENSP00000261584.4:p.Lys517AsnfsTer11
ENST00000565038.1:c.86+2855_86+2856del
ENST00000568219.5:c.666_667del	ENSP00000454703.2:p.Lys222AsnfsTer11
NM_024675.3:c.1551_1552del , LRG_308t1:c.1551_1552del	NP_078951.2:p.Lys517AsnfsTer11
XM_011545946.1:c.1557_1558del	XP_011544248.1:p.Lys519AsnfsTer11
XM_011545947.1:c.1557_1558del	XP_011544249.1:p.Lys519AsnfsTer11
XM_011545948.1:c.666_667del	XP_011544250.1:p.Lys222AsnfsTer11
XR_950851.1:n.2347_2348del
XM_011545946.2:c.1557_1558del	XP_011544248.1:p.Lys519AsnfsTer11
XM_011545947.2:c.1557_1558del	XP_011544249.1:p.Lys519AsnfsTer11
XM_011545948.2:c.666_667del	XP_011544250.1:p.Lys222AsnfsTer11
XM_017023671.1:c.1557_1558del	XP_016879160.1:p.Lys519AsnfsTer11
XM_017023672.2:c.1551_1552del	XP_016879161.1:p.Lys517AsnfsTer11
XM_017023673.2:c.1551_1552del	XP_016879162.1:p.Lys517AsnfsTer11
NM_024675.4:c.1551_1552del MANE Select	NP_078951.2:p.Lys517AsnfsTer11