Canonical Allele Identifier: CA2213422957
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629966_23629968delinsTGG , CM000678.2:g.23629966_23629968delinsTGG GRCh38
NC_000016.9:g.23641287_23641289delinsTGG , CM000678.1:g.23641287_23641289delinsTGG GRCh37
NC_000016.8:g.23548788_23548790delinsTGG NCBI36
NG_007406.1:g.16390_16392delinsCCA , LRG_308:g.16390_16392delinsCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2192_2194delinsCCA ENSP00000460666.3:p.Pro731=
ENST00000565038.2:c.212-693_212-691delinsCCA ENSP00000459882.2:n.212-693_212-691delinsCCA
ENST00000566069.6:c.2186_2188delinsCCA ENSP00000459237.2:p.Pro729=
ENST00000697377.2:c.2192_2194delinsCCA ENSP00000513286.2:p.Pro731=
ENST00000697379.2:c.2192_2194delinsCCA ENSP00000513287.2:p.Pro731=
ENST00000561514.2:c.1301_1303delinsCCA ENSP00000460666.2:p.Pro434=
ENST00000697374.1:c.1301_1303delinsCCA ENSP00000513284.1:p.Pro434=
ENST00000697375.1:n.3533_3535delinsCCA
ENST00000697376.1:c.1301_1303delinsCCA ENSP00000513285.1:p.Pro434=
ENST00000697377.1:c.1301_1303delinsCCA ENSP00000513286.1:p.Pro434=
ENST00000697378.1:n.2706_2708delinsCCA
ENST00000697379.1:c.1301_1303delinsCCA ENSP00000513287.1:p.Pro434=
ENST00000697380.1:n.1114_1116delinsCCA
ENST00000697381.1:n.881_883delinsCCA
ENST00000697382.1:c.1301_1303delinsCCA ENSP00000513288.1:p.Pro434=
ENST00000697383.1:c.49-693_49-691delinsCCA ENSP00000513289.1:n.49-693_49-691delinsCCA
ENST00000697384.1:n.2340_2342delinsCCA
ENST00000261584.9:c.2186_2188delinsCCA MANE Select ENSP00000261584.4:p.Pro729=
ENST00000261584.8:c.2186_2188delinsCCA ENSP00000261584.4:p.Pro729=
ENST00000565038.1:c.87-693_87-691delinsCCA
ENST00000568219.5:c.1301_1303delinsCCA ENSP00000454703.2:p.Pro434=
NM_024675.3:c.2186_2188delinsCCA , LRG_308t1:c.2186_2188delinsCCA NP_078951.2:p.Pro729=
XM_011545946.1:c.2192_2194delinsCCA XP_011544248.1:p.Pro731=
XM_011545947.1:c.2192_2194delinsCCA XP_011544249.1:p.Pro731=
XM_011545948.1:c.1301_1303delinsCCA XP_011544250.1:p.Pro434=
XR_950851.1:n.2982_2984delinsCCA
XM_011545946.2:c.2192_2194delinsCCA XP_011544248.1:p.Pro731=
XM_011545947.2:c.2192_2194delinsCCA XP_011544249.1:p.Pro731=
XM_011545948.2:c.1301_1303delinsCCA XP_011544250.1:p.Pro434=
XM_017023671.1:c.2192_2194delinsCCA XP_016879160.1:p.Pro731=
XM_017023672.2:c.2186_2188delinsCCA XP_016879161.1:p.Pro729=
XM_017023673.2:c.2186_2188delinsCCA XP_016879162.1:p.Pro729=
NM_024675.4:c.2186_2188delinsCCA MANE Select NP_078951.2:p.Pro729=