Canonical Allele Identifier: CA2213428213
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635097_23635099delinsTGA , CM000678.2:g.23635097_23635099delinsTGA GRCh38
NC_000016.9:g.23646418_23646420delinsTGA , CM000678.1:g.23646418_23646420delinsTGA GRCh37
NC_000016.8:g.23553919_23553921delinsTGA NCBI36
NG_007406.1:g.11259_11261delinsTCA , LRG_308:g.11259_11261delinsTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1453_1455delinsTCA ENSP00000460666.3:p.Ser485=
ENST00000565038.2:c.211+2751_211+2753delinsTCA ENSP00000459882.2:n.211+2751_211+2753delinsTCA
ENST00000566069.6:c.1447_1449delinsTCA ENSP00000459237.2:p.Ser483=
ENST00000697377.2:c.1453_1455delinsTCA ENSP00000513286.2:p.Ser485=
ENST00000697379.2:c.1453_1455delinsTCA ENSP00000513287.2:p.Ser485=
ENST00000561514.2:c.562_564delinsTCA ENSP00000460666.2:p.Ser188=
ENST00000697374.1:c.562_564delinsTCA ENSP00000513284.1:p.Ser188=
ENST00000697375.1:n.2794_2796delinsTCA
ENST00000697376.1:c.562_564delinsTCA ENSP00000513285.1:p.Ser188=
ENST00000697377.1:c.562_564delinsTCA ENSP00000513286.1:p.Ser188=
ENST00000697378.1:n.1967_1969delinsTCA
ENST00000697379.1:c.562_564delinsTCA ENSP00000513287.1:p.Ser188=
ENST00000697382.1:c.562_564delinsTCA ENSP00000513288.1:p.Ser188=
ENST00000697383.1:c.49-5824_49-5822delinsTCA ENSP00000513289.1:n.49-5824_49-5822delinsTCA
ENST00000697384.1:n.1601_1603delinsTCA
ENST00000261584.9:c.1447_1449delinsTCA MANE Select ENSP00000261584.4:p.Ser483=
ENST00000261584.8:c.1447_1449delinsTCA ENSP00000261584.4:p.Ser483=
ENST00000565038.1:c.86+2751_86+2753delinsTCA
ENST00000568219.5:c.562_564delinsTCA ENSP00000454703.2:p.Ser188=
NM_024675.3:c.1447_1449delinsTCA , LRG_308t1:c.1447_1449delinsTCA NP_078951.2:p.Ser483=
XM_011545946.1:c.1453_1455delinsTCA XP_011544248.1:p.Ser485=
XM_011545947.1:c.1453_1455delinsTCA XP_011544249.1:p.Ser485=
XM_011545948.1:c.562_564delinsTCA XP_011544250.1:p.Ser188=
XR_950851.1:n.2243_2245delinsTCA
XM_011545946.2:c.1453_1455delinsTCA XP_011544248.1:p.Ser485=
XM_011545947.2:c.1453_1455delinsTCA XP_011544249.1:p.Ser485=
XM_011545948.2:c.562_564delinsTCA XP_011544250.1:p.Ser188=
XM_017023671.1:c.1453_1455delinsTCA XP_016879160.1:p.Ser485=
XM_017023672.2:c.1447_1449delinsTCA XP_016879161.1:p.Ser483=
XM_017023673.2:c.1447_1449delinsTCA XP_016879162.1:p.Ser483=
NM_024675.4:c.1447_1449delinsTCA MANE Select NP_078951.2:p.Ser483=