Canonical Allele Identifier: CA2695222907
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621371_23621372dup , CM000678.2:g.23621371_23621372dup GRCh38
NC_000016.9:g.23632692_23632693dup , CM000678.1:g.23632692_23632693dup GRCh37
NC_000016.8:g.23540193_23540194dup NCBI36
NG_007406.1:g.24986_24987dup , LRG_308:g.24986_24987dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3109_3110dup ENSP00000460666.3:p.Val1038LeufsTer6
ENST00000565038.2:c.*584_*585dup ENSP00000459882.2:n.*584_*585dup
ENST00000566069.6:c.3103_3104dup ENSP00000459237.2:p.Val1036LeufsTer6
ENST00000697377.2:c.2947_2948dup ENSP00000513286.2:p.Val984LeufsTer6
ENST00000697379.2:c.3109_3110dup ENSP00000513287.2:p.Val1038LeufsTer6
ENST00000561514.2:c.2218_2219dup ENSP00000460666.2:p.Val741LeufsTer6
ENST00000697374.1:c.2218_2219dup ENSP00000513284.1:p.Val741LeufsTer6
ENST00000697375.1:n.4450_4451dup
ENST00000697376.1:c.2218_2219dup ENSP00000513285.1:p.Val741LeufsTer6
ENST00000697377.1:c.2056_2057dup ENSP00000513286.1:p.Val687LeufsTer6
ENST00000697378.1:n.3623_3624dup
ENST00000697379.1:c.2218_2219dup ENSP00000513287.1:p.Val741LeufsTer6
ENST00000697380.1:n.2395_2396dup
ENST00000697381.1:n.1798_1799dup
ENST00000697382.1:c.2218_2219dup ENSP00000513288.1:p.Val741LeufsTer19
ENST00000697383.1:c.637_638dup ENSP00000513289.1:p.Val214LeufsTer6
ENST00000261584.9:c.3103_3104dup MANE Select ENSP00000261584.4:p.Val1036LeufsTer6
ENST00000261584.8:c.3103_3104dup ENSP00000261584.4:p.Val1036LeufsTer6
ENST00000566069.5:c.18_19dup
ENST00000568219.5:c.2218_2219dup ENSP00000454703.2:p.Val741LeufsTer6
NM_024675.3:c.3103_3104dup , LRG_308t1:c.3103_3104dup NP_078951.2:p.Val1036LeufsTer6
XM_011545946.1:c.3109_3110dup XP_011544248.1:p.Val1038LeufsTer6
XM_011545947.1:c.3109_3110dup XP_011544249.1:p.Val1038LeufsTer6
XM_011545948.1:c.2218_2219dup XP_011544250.1:p.Val741LeufsTer6
XR_950851.1:n.3899_3900dup
XM_011545946.2:c.3109_3110dup XP_011544248.1:p.Val1038LeufsTer6
XM_011545947.2:c.3109_3110dup XP_011544249.1:p.Val1038LeufsTer6
XM_011545948.2:c.2218_2219dup XP_011544250.1:p.Val741LeufsTer6
XM_017023671.1:c.3109_3110dup XP_016879160.1:p.Val1038LeufsTer10
XM_017023672.2:c.3103_3104dup XP_016879161.1:p.Val1036LeufsTer10
XM_017023673.2:c.3103_3104dup XP_016879162.1:p.Val1036LeufsTer6
NM_024675.4:c.3103_3104dup MANE Select NP_078951.2:p.Val1036LeufsTer6