Canonical Allele Identifier: CA2499223407
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1210162
ClinVar RCV Id: RCV001580207
dbSNP Id: rs2142300433

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23614105_23614110del , CM000678.2:g.23614105_23614110del GRCh38
NC_000016.9:g.23625426_23625431del , CM000678.1:g.23625426_23625431del GRCh37
NC_000016.8:g.23532927_23532932del NCBI36
NG_007406.1:g.32251_32256del , LRG_308:g.32251_32256del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3120-16_3120-11del ENSP00000460666.3:n.3120-16_3120-11del
ENST00000565038.2:c.*595-16_*595-11del ENSP00000459882.2:n.*595-16_*595-11del
ENST00000566069.6:c.3114-16_3114-11del ENSP00000459237.2:n.3114-16_3114-11del
ENST00000697377.2:c.2958-16_2958-11del ENSP00000513286.2:n.2958-16_2958-11del
ENST00000697379.2:c.3120-16_3120-11del ENSP00000513287.2:n.3120-16_3120-11del
ENST00000561514.2:c.2229-16_2229-11del ENSP00000460666.2:n.2229-16_2229-11del
ENST00000697374.1:c.2229-16_2229-11del ENSP00000513284.1:n.2229-16_2229-11del
ENST00000697375.1:n.4461-16_4461-11del
ENST00000697376.1:c.2229-16_2229-11del ENSP00000513285.1:n.2229-16_2229-11del
ENST00000697377.1:c.2067-16_2067-11del ENSP00000513286.1:n.2067-16_2067-11del
ENST00000697378.1:n.3634-16_3634-11del
ENST00000697379.1:c.2229-16_2229-11del ENSP00000513287.1:n.2229-16_2229-11del
ENST00000697380.1:n.2406-6095_2406-6090del
ENST00000697381.1:n.1809-16_1809-11del
ENST00000697382.1:c.2229-6095_2229-6090del ENSP00000513288.1:n.2229-6095_2229-6090de...
ENST00000697383.1:c.648-16_648-11del ENSP00000513289.1:n.648-16_648-11del
ENST00000261584.9:c.3114-16_3114-11del MANE Select ENSP00000261584.4:n.3114-16_3114-11del
ENST00000261584.8:c.3114-16_3114-11del ENSP00000261584.4:n.3114-16_3114-11del
ENST00000566069.5:c.29-16_29-11del
ENST00000568219.5:c.2229-16_2229-11del ENSP00000454703.2:n.2229-16_2229-11del
NM_024675.3:c.3114-16_3114-11del , LRG_308t1:c.3114-16_3114-11del NP_078951.2:n.3114-16_3114-11del
XM_011545946.1:c.3120-16_3120-11del XP_011544248.1:n.3120-16_3120-11del
XM_011545947.1:c.3120-16_3120-11del XP_011544249.1:n.3120-16_3120-11del
XM_011545948.1:c.2229-16_2229-11del XP_011544250.1:n.2229-16_2229-11del
XR_950851.1:n.3910-6095_3910-6090del
XM_011545946.2:c.3120-16_3120-11del XP_011544248.1:n.3120-16_3120-11del
XM_011545947.2:c.3120-16_3120-11del XP_011544249.1:n.3120-16_3120-11del
XM_011545948.2:c.2229-16_2229-11del XP_011544250.1:n.2229-16_2229-11del
XM_017023671.1:c.3119+7255_3119+7260del XP_016879160.1:n.3119+7255_3119+7260del
XM_017023672.2:c.3113+7255_3113+7260del XP_016879161.1:n.3113+7255_3113+7260del
XM_017023673.2:c.3114-16_3114-11del XP_016879162.1:n.3114-16_3114-11del
NM_024675.4:c.3114-16_3114-11del MANE Select NP_078951.2:n.3114-16_3114-11del