Canonical Allele Identifier: CA494180192
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621458_23621459insT , CM000678.2:g.23621458_23621459insT GRCh38
NC_000016.9:g.23632779_23632780insT , CM000678.1:g.23632779_23632780insT GRCh37
NC_000016.8:g.23540280_23540281insT NCBI36
NG_007406.1:g.24899_24900insA , LRG_308:g.24899_24900insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3022_3023insA ENSP00000460666.3:p.Leu1008TyrfsTer5
ENST00000565038.2:c.*497_*498insA ENSP00000459882.2:n.*497_*498insA
ENST00000566069.6:c.3016_3017insA ENSP00000459237.2:p.Leu1006TyrfsTer5
ENST00000697377.2:c.2860_2861insA ENSP00000513286.2:p.Leu954TyrfsTer5
ENST00000697379.2:c.3022_3023insA ENSP00000513287.2:p.Leu1008TyrfsTer5
ENST00000561514.2:c.2131_2132insA ENSP00000460666.2:p.Leu711TyrfsTer5
ENST00000697374.1:c.2131_2132insA ENSP00000513284.1:p.Leu711TyrfsTer5
ENST00000697375.1:n.4363_4364insA
ENST00000697376.1:c.2131_2132insA ENSP00000513285.1:p.Leu711TyrfsTer5
ENST00000697377.1:c.1969_1970insA ENSP00000513286.1:p.Leu657TyrfsTer5
ENST00000697378.1:n.3536_3537insA
ENST00000697379.1:c.2131_2132insA ENSP00000513287.1:p.Leu711TyrfsTer5
ENST00000697380.1:n.2308_2309insA
ENST00000697381.1:n.1711_1712insA
ENST00000697382.1:c.2131_2132insA ENSP00000513288.1:p.Leu711TyrfsTer5
ENST00000697383.1:c.550_551insA ENSP00000513289.1:p.Leu184TyrfsTer5
ENST00000261584.9:c.3016_3017insA MANE Select ENSP00000261584.4:p.Leu1006TyrfsTer5
ENST00000261584.8:c.3016_3017insA ENSP00000261584.4:p.Leu1006TyrfsTer5
ENST00000568219.5:c.2131_2132insA ENSP00000454703.2:p.Leu711TyrfsTer5
NM_024675.3:c.3016_3017insA , LRG_308t1:c.3016_3017insA NP_078951.2:p.Leu1006TyrfsTer5
XM_011545946.1:c.3022_3023insA XP_011544248.1:p.Leu1008TyrfsTer5
XM_011545947.1:c.3022_3023insA XP_011544249.1:p.Leu1008TyrfsTer5
XM_011545948.1:c.2131_2132insA XP_011544250.1:p.Leu711TyrfsTer5
XR_950851.1:n.3812_3813insA
XM_011545946.2:c.3022_3023insA XP_011544248.1:p.Leu1008TyrfsTer5
XM_011545947.2:c.3022_3023insA XP_011544249.1:p.Leu1008TyrfsTer5
XM_011545948.2:c.2131_2132insA XP_011544250.1:p.Leu711TyrfsTer5
XM_017023671.1:c.3022_3023insA XP_016879160.1:p.Leu1008TyrfsTer5
XM_017023672.2:c.3016_3017insA XP_016879161.1:p.Leu1006TyrfsTer5
XM_017023673.2:c.3016_3017insA XP_016879162.1:p.Leu1006TyrfsTer5
NM_024675.4:c.3016_3017insA MANE Select NP_078951.2:p.Leu1006TyrfsTer5