Canonical Allele Identifier: CA1139664602
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 926272
ClinVar RCV Id: RCV001188764
dbSNP Id: rs1966868144

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630480_23630490del , CM000678.2:g.23630480_23630490del GRCh38
NC_000016.9:g.23641801_23641811del , CM000678.1:g.23641801_23641811del GRCh37
NC_000016.8:g.23549302_23549312del NCBI36
NG_007406.1:g.15869_15879del , LRG_308:g.15869_15879del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1691-20_1691-10del ENSP00000460666.3:n.1691-20_1691-10del
ENST00000565038.2:c.212-1214_212-1204del ENSP00000459882.2:n.212-1214_212-1204del
ENST00000566069.6:c.1685-20_1685-10del ENSP00000459237.2:n.1685-20_1685-10del
ENST00000697377.2:c.1691-20_1691-10del ENSP00000513286.2:n.1691-20_1691-10del
ENST00000697379.2:c.1691-20_1691-10del ENSP00000513287.2:n.1691-20_1691-10del
ENST00000561514.2:c.800-20_800-10del ENSP00000460666.2:n.800-20_800-10del
ENST00000697374.1:c.800-20_800-10del ENSP00000513284.1:n.800-20_800-10del
ENST00000697375.1:n.3032-20_3032-10del
ENST00000697376.1:c.800-20_800-10del ENSP00000513285.1:n.800-20_800-10del
ENST00000697377.1:c.800-20_800-10del ENSP00000513286.1:n.800-20_800-10del
ENST00000697378.1:n.2205-20_2205-10del
ENST00000697379.1:c.800-20_800-10del ENSP00000513287.1:n.800-20_800-10del
ENST00000697380.1:n.593_603del
ENST00000697381.1:n.380-20_380-10del
ENST00000697382.1:c.800-20_800-10del ENSP00000513288.1:n.800-20_800-10del
ENST00000697383.1:c.49-1214_49-1204del ENSP00000513289.1:n.49-1214_49-1204del
ENST00000697384.1:n.1839-20_1839-10del
ENST00000261584.9:c.1685-20_1685-10del MANE Select ENSP00000261584.4:n.1685-20_1685-10del
ENST00000261584.8:c.1685-20_1685-10del ENSP00000261584.4:n.1685-20_1685-10del
ENST00000565038.1:c.87-1214_87-1204del
ENST00000568219.5:c.800-20_800-10del ENSP00000454703.2:n.800-20_800-10del
NM_024675.3:c.1685-20_1685-10del , LRG_308t1:c.1685-20_1685-10del NP_078951.2:n.1685-20_1685-10del
XM_011545946.1:c.1691-20_1691-10del XP_011544248.1:n.1691-20_1691-10del
XM_011545947.1:c.1691-20_1691-10del XP_011544249.1:n.1691-20_1691-10del
XM_011545948.1:c.800-20_800-10del XP_011544250.1:n.800-20_800-10del
XR_950851.1:n.2481-20_2481-10del
XM_011545946.2:c.1691-20_1691-10del XP_011544248.1:n.1691-20_1691-10del
XM_011545947.2:c.1691-20_1691-10del XP_011544249.1:n.1691-20_1691-10del
XM_011545948.2:c.800-20_800-10del XP_011544250.1:n.800-20_800-10del
XM_017023671.1:c.1691-20_1691-10del XP_016879160.1:n.1691-20_1691-10del
XM_017023672.2:c.1685-20_1685-10del XP_016879161.1:n.1685-20_1685-10del
XM_017023673.2:c.1685-20_1685-10del XP_016879162.1:n.1685-20_1685-10del
NM_024675.4:c.1685-20_1685-10del MANE Select NP_078951.2:n.1685-20_1685-10del