Canonical Allele Identifier: CA2540892230
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635524_23635525insA , CM000678.2:g.23635524_23635525insA GRCh38
NC_000016.9:g.23646845_23646846insA , CM000678.1:g.23646845_23646846insA GRCh37
NC_000016.8:g.23554346_23554347insA NCBI36
NG_007406.1:g.10833_10834insT , LRG_308:g.10833_10834insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1027_1028insT ENSP00000460666.3:p.Glu343ValfsTer20
ENST00000565038.2:c.211+2325_211+2326insT ENSP00000459882.2:n.211+2325_211+2326insT
ENST00000566069.6:c.1021_1022insT ENSP00000459237.2:p.Glu341ValfsTer20
ENST00000697377.2:c.1027_1028insT ENSP00000513286.2:p.Glu343ValfsTer20
ENST00000697379.2:c.1027_1028insT ENSP00000513287.2:p.Glu343ValfsTer20
ENST00000561514.2:c.136_137insT ENSP00000460666.2:p.Glu46ValfsTer20
ENST00000697374.1:c.136_137insT ENSP00000513284.1:p.Glu46ValfsTer20
ENST00000697375.1:n.2368_2369insT
ENST00000697376.1:c.136_137insT ENSP00000513285.1:p.Glu46ValfsTer20
ENST00000697377.1:c.136_137insT ENSP00000513286.1:p.Glu46ValfsTer20
ENST00000697378.1:n.1541_1542insT
ENST00000697379.1:c.136_137insT ENSP00000513287.1:p.Glu46ValfsTer20
ENST00000697382.1:c.136_137insT ENSP00000513288.1:p.Glu46ValfsTer20
ENST00000697383.1:c.48+5585_48+5586insT ENSP00000513289.1:n.48+5585_48+5586insT
ENST00000697384.1:n.1175_1176insT
ENST00000261584.9:c.1021_1022insT MANE Select ENSP00000261584.4:p.Glu341ValfsTer20
ENST00000261584.8:c.1021_1022insT ENSP00000261584.4:p.Glu341ValfsTer20
ENST00000565038.1:c.86+2325_86+2326insT
ENST00000568219.5:c.136_137insT ENSP00000454703.2:p.Glu46ValfsTer20
NM_024675.3:c.1021_1022insT , LRG_308t1:c.1021_1022insT NP_078951.2:p.Glu341ValfsTer20
XM_011545946.1:c.1027_1028insT XP_011544248.1:p.Glu343ValfsTer20
XM_011545947.1:c.1027_1028insT XP_011544249.1:p.Glu343ValfsTer20
XM_011545948.1:c.136_137insT XP_011544250.1:p.Glu46ValfsTer20
XR_950851.1:n.1817_1818insT
XM_011545946.2:c.1027_1028insT XP_011544248.1:p.Glu343ValfsTer20
XM_011545947.2:c.1027_1028insT XP_011544249.1:p.Glu343ValfsTer20
XM_011545948.2:c.136_137insT XP_011544250.1:p.Glu46ValfsTer20
XM_017023671.1:c.1027_1028insT XP_016879160.1:p.Glu343ValfsTer20
XM_017023672.2:c.1021_1022insT XP_016879161.1:p.Glu341ValfsTer20
XM_017023673.2:c.1021_1022insT XP_016879162.1:p.Glu341ValfsTer20
NM_024675.4:c.1021_1022insT MANE Select NP_078951.2:p.Glu341ValfsTer20