Canonical Allele Identifier: CA2213429461
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635499_23635500delinsAT , CM000678.2:g.23635499_23635500delinsAT GRCh38
NC_000016.9:g.23646820_23646821delinsAT , CM000678.1:g.23646820_23646821delinsAT GRCh37
NC_000016.8:g.23554321_23554322delinsAT NCBI36
NG_007406.1:g.10858_10859delinsAT , LRG_308:g.10858_10859delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1052_1053delinsAT ENSP00000460666.3:p.Asn351=
ENST00000565038.2:c.211+2350_211+2351delinsAT ENSP00000459882.2:n.211+2350_211+2351delinsAT
ENST00000566069.6:c.1046_1047delinsAT ENSP00000459237.2:p.Asn349=
ENST00000697377.2:c.1052_1053delinsAT ENSP00000513286.2:p.Asn351=
ENST00000697379.2:c.1052_1053delinsAT ENSP00000513287.2:p.Asn351=
ENST00000561514.2:c.161_162delinsAT ENSP00000460666.2:p.Asn54=
ENST00000697374.1:c.161_162delinsAT ENSP00000513284.1:p.Asn54=
ENST00000697375.1:n.2393_2394delinsAT
ENST00000697376.1:c.161_162delinsAT ENSP00000513285.1:p.Asn54=
ENST00000697377.1:c.161_162delinsAT ENSP00000513286.1:p.Asn54=
ENST00000697378.1:n.1566_1567delinsAT
ENST00000697379.1:c.161_162delinsAT ENSP00000513287.1:p.Asn54=
ENST00000697382.1:c.161_162delinsAT ENSP00000513288.1:p.Asn54=
ENST00000697383.1:c.48+5610_48+5611delinsAT ENSP00000513289.1:n.48+5610_48+5611delinsAT
ENST00000697384.1:n.1200_1201delinsAT
ENST00000261584.9:c.1046_1047delinsAT MANE Select ENSP00000261584.4:p.Asn349=
ENST00000261584.8:c.1046_1047delinsAT ENSP00000261584.4:p.Asn349=
ENST00000565038.1:c.86+2350_86+2351delinsAT
ENST00000568219.5:c.161_162delinsAT ENSP00000454703.2:p.Asn54=
NM_024675.3:c.1046_1047delinsAT , LRG_308t1:c.1046_1047delinsAT NP_078951.2:p.Asn349=
XM_011545946.1:c.1052_1053delinsAT XP_011544248.1:p.Asn351=
XM_011545947.1:c.1052_1053delinsAT XP_011544249.1:p.Asn351=
XM_011545948.1:c.161_162delinsAT XP_011544250.1:p.Asn54=
XR_950851.1:n.1842_1843delinsAT
XM_011545946.2:c.1052_1053delinsAT XP_011544248.1:p.Asn351=
XM_011545947.2:c.1052_1053delinsAT XP_011544249.1:p.Asn351=
XM_011545948.2:c.161_162delinsAT XP_011544250.1:p.Asn54=
XM_017023671.1:c.1052_1053delinsAT XP_016879160.1:p.Asn351=
XM_017023672.2:c.1046_1047delinsAT XP_016879161.1:p.Asn349=
XM_017023673.2:c.1046_1047delinsAT XP_016879162.1:p.Asn349=
NM_024675.4:c.1046_1047delinsAT MANE Select NP_078951.2:p.Asn349=