Canonical Allele Identifier: CA2580091416
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2104816
ClinVar RCV Id: RCV003031572

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630487_23630488insGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGA , CM000678.2:g.23630487_23630488insGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGA GRCh38
NC_000016.9:g.23641808_23641809insGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGA , CM000678.1:g.23641808_23641809insGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGA GRCh37
NC_000016.8:g.23549309_23549310insGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGA NCBI36
NG_007406.1:g.15870_15871insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC , LRG_308:g.15870_15871insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000460666.3:n.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAA...
ENST00000565038.2:c.212-1213_212-1212insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000459882.2:n.212-1213_212-1212insTCCGCCCACCTCGGCCTCCCA...
ENST00000566069.6:c.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000459237.2:n.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAA...
ENST00000697377.2:c.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000513286.2:n.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAA...
ENST00000697379.2:c.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000513287.2:n.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAA...
ENST00000561514.2:c.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000460666.2:n.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGT...
ENST00000697374.1:c.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000513284.1:n.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGT...
ENST00000697375.1:n.3032-19_3032-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC
ENST00000697376.1:c.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000513285.1:n.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGT...
ENST00000697377.1:c.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000513286.1:n.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGT...
ENST00000697378.1:n.2205-19_2205-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC
ENST00000697379.1:c.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000513287.1:n.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGT...
ENST00000697380.1:n.594_595insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC
ENST00000697381.1:n.380-19_380-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC
ENST00000697382.1:c.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000513288.1:n.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGT...
ENST00000697383.1:c.49-1213_49-1212insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000513289.1:n.49-1213_49-1212insTCCGCCCACCTCGGCCTCCCAAA...
ENST00000697384.1:n.1839-19_1839-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC
ENST00000261584.9:c.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC MANE Select ENSP00000261584.4:n.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAA...
ENST00000261584.8:c.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000261584.4:n.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAA...
ENST00000565038.1:c.87-1213_87-1212insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC
ENST00000568219.5:c.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC ENSP00000454703.2:n.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGT...
NM_024675.3:c.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC , LRG_308t1:c.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC NP_078951.2:n.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTG...
XM_011545946.1:c.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC XP_011544248.1:n.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAAGTG...
XM_011545947.1:c.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC XP_011544249.1:n.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAAGTG...
XM_011545948.1:c.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC XP_011544250.1:n.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGTGCT...
XR_950851.1:n.2481-19_2481-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC
XM_011545946.2:c.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC XP_011544248.1:n.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAAGTG...
XM_011545947.2:c.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC XP_011544249.1:n.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAAGTG...
XM_011545948.2:c.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC XP_011544250.1:n.800-19_800-18insTCCGCCCACCTCGGCCTCCCAAAGTGCT...
XM_017023671.1:c.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC XP_016879160.1:n.1691-19_1691-18insTCCGCCCACCTCGGCCTCCCAAAGTG...
XM_017023672.2:c.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC XP_016879161.1:n.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTG...
XM_017023673.2:c.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC XP_016879162.1:n.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTG...
NM_024675.4:c.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC MANE Select NP_078951.2:n.1685-19_1685-18insTCCGCCCACCTCGGCCTCCCAAAGTGCTG...