Canonical Allele Identifier: CA915941070
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1453402
ClinVar RCV Id: RCV002002389 RCV002441103
dbSNP Id: rs587776418
ERepo: CA915941070/MONDO:0016419/020
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23624057_23624058dup , CM000678.2:g.23624057_23624058dup GRCh38
NC_000016.9:g.23635378_23635379dup , CM000678.1:g.23635378_23635379dup GRCh37
NC_000016.8:g.23542879_23542880dup NCBI36
NG_007406.1:g.22302_22303dup , LRG_308:g.22302_22303dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2793_2794dup ENSP00000460666.3:p.Asn932IlefsTer6
ENST00000565038.2:c.*268_*269dup ENSP00000459882.2:n.*268_*269dup
ENST00000566069.6:c.2787_2788dup ENSP00000459237.2:p.Asn930IlefsTer6
ENST00000697377.2:c.2631_2632dup ENSP00000513286.2:p.Asn878IlefsTer6
ENST00000697379.2:c.2793_2794dup ENSP00000513287.2:p.Asn932IlefsTer6
ENST00000561514.2:c.1902_1903dup ENSP00000460666.2:p.Asn635IlefsTer6
ENST00000697374.1:c.1902_1903dup ENSP00000513284.1:p.Asn635IlefsTer6
ENST00000697375.1:n.4134_4135dup
ENST00000697376.1:c.1902_1903dup ENSP00000513285.1:p.Asn635IlefsTer6
ENST00000697377.1:c.1740_1741dup ENSP00000513286.1:p.Asn581IlefsTer6
ENST00000697378.1:n.3307_3308dup
ENST00000697379.1:c.1902_1903dup ENSP00000513287.1:p.Asn635IlefsTer6
ENST00000697380.1:n.2079_2080dup
ENST00000697381.1:n.1482_1483dup
ENST00000697382.1:c.1902_1903dup ENSP00000513288.1:p.Asn635IlefsTer6
ENST00000697383.1:c.321_322dup ENSP00000513289.1:p.Asn108IlefsTer6
ENST00000261584.9:c.2787_2788dup MANE Select ENSP00000261584.4:p.Asn930IlefsTer6
ENST00000261584.8:c.2787_2788dup ENSP00000261584.4:p.Asn930IlefsTer6
ENST00000568219.5:c.1902_1903dup ENSP00000454703.2:p.Asn635IlefsTer6
NM_024675.3:c.2787_2788dup , LRG_308t1:c.2787_2788dup NP_078951.2:p.Asn930IlefsTer6
XM_011545946.1:c.2793_2794dup XP_011544248.1:p.Asn932IlefsTer6
XM_011545947.1:c.2793_2794dup XP_011544249.1:p.Asn932IlefsTer6
XM_011545948.1:c.1902_1903dup XP_011544250.1:p.Asn635IlefsTer6
XR_950851.1:n.3583_3584dup
XM_011545946.2:c.2793_2794dup XP_011544248.1:p.Asn932IlefsTer6
XM_011545947.2:c.2793_2794dup XP_011544249.1:p.Asn932IlefsTer6
XM_011545948.2:c.1902_1903dup XP_011544250.1:p.Asn635IlefsTer6
XM_017023671.1:c.2793_2794dup XP_016879160.1:p.Asn932IlefsTer6
XM_017023672.2:c.2787_2788dup XP_016879161.1:p.Asn930IlefsTer6
XM_017023673.2:c.2787_2788dup XP_016879162.1:p.Asn930IlefsTer6
NM_024675.4:c.2787_2788dup MANE Select NP_078951.2:p.Asn930IlefsTer6
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