Canonical Allele Identifier: CA2499223405

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1049345
• ClinVar RCV Id: RCV001355345
• dbSNP Id: rs2142298541

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614002_23614092del , CM000678.2:g.23614002_23614092del	GRCh38
NC_000016.9:g.23625323_23625413del , CM000678.1:g.23625323_23625413del	GRCh37
NC_000016.8:g.23532824_23532914del	NCBI36
NG_007406.1:g.32266_32356del , LRG_308:g.32266_32356del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3120-1_3207+2del
ENST00000565038.2:c.*595-1_*682+2del
ENST00000566069.6:c.3114-1_3201+2del
ENST00000697377.2:c.2958-1_3045+2del
ENST00000697379.2:c.3120-1_3207+2del
ENST00000561514.2:c.2229-1_2316+2del
ENST00000697374.1:c.2229-1_2316+2del
ENST00000697375.1:n.4461-1_4548+2del
ENST00000697376.1:c.2229-1_2316+2del
ENST00000697377.1:c.2067-1_2154+2del
ENST00000697378.1:n.3634-1_3721+2del
ENST00000697379.1:c.2229-1_2316+2del
ENST00000697380.1:n.2406-6080_2406-5990del
ENST00000697381.1:n.1809-1_1896+2del
ENST00000697382.1:c.2229-6080_2229-5990del	ENSP00000513288.1:n.2229-6080_2229-5990de...
ENST00000697383.1:c.648-1_735+2del
ENST00000261584.9:c.3114-1_3201+2del
ENST00000261584.8:c.3114-1_3201+2del
ENST00000566069.5:c.29-1_116+2del
ENST00000568219.5:c.2229-1_2316+2del
NM_024675.3:c.3114-1_3201+2del , LRG_308t1:c.3114-1_3201+2del
XM_011545946.1:c.3120-1_3207+2del
XM_011545947.1:c.3120-1_3207+2del
XM_011545948.1:c.2229-1_2316+2del
XR_950851.1:n.3910-6080_3910-5990del
XM_011545946.2:c.3120-1_3207+2del
XM_011545947.2:c.3120-1_3207+2del
XM_011545948.2:c.2229-1_2316+2del
XM_017023671.1:c.3119+7270_3119+7360del	XP_016879160.1:n.3119+7270_3119+7360del
XM_017023672.2:c.3113+7270_3113+7360del	XP_016879161.1:n.3113+7270_3113+7360del
XM_017023673.2:c.3114-1_3201+2del
NM_024675.4:c.3114-1_3201+2del