Canonical Allele Identifier: CA2213424363
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630345T= , CM000678.2:g.23630345T= GRCh38
NC_000016.9:g.23641666T= , CM000678.1:g.23641666T= GRCh37
NC_000016.8:g.23549167T= NCBI36
NG_007406.1:g.16013A= , LRG_308:g.16013A=

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.1815A= ENSP00000460666.3:p.Leu605=
ENST00000565038.2:c.212-1070A= ENSP00000459882.2:n.212-1070A=
ENST00000566069.6:c.1809A= ENSP00000459237.2:p.Leu603=
ENST00000697377.2:c.1815A= ENSP00000513286.2:p.Leu605=
ENST00000697379.2:c.1815A= ENSP00000513287.2:p.Leu605=
ENST00000561514.2:c.924A= ENSP00000460666.2:p.Leu308=
ENST00000697374.1:c.924A= ENSP00000513284.1:p.Leu308=
ENST00000697375.1:n.3156A=
ENST00000697376.1:c.924A= ENSP00000513285.1:p.Leu308=
ENST00000697377.1:c.924A= ENSP00000513286.1:p.Leu308=
ENST00000697378.1:n.2329A=
ENST00000697379.1:c.924A= ENSP00000513287.1:p.Leu308=
ENST00000697380.1:n.737A=
ENST00000697381.1:n.504A=
ENST00000697382.1:c.924A= ENSP00000513288.1:p.Leu308=
ENST00000697383.1:c.49-1070A= ENSP00000513289.1:n.49-1070A=
ENST00000697384.1:n.1963A=
ENST00000261584.9:c.1809A= MANE Select ENSP00000261584.4:p.Leu603=
ENST00000261584.8:c.1809A= ENSP00000261584.4:p.Leu603=
ENST00000565038.1:c.87-1070A=
ENST00000568219.5:c.924A= ENSP00000454703.2:p.Leu308=
NM_024675.3:c.1809A= , LRG_308t1:c.1809A= NP_078951.2:p.Leu603=
XM_011545946.1:c.1815A= XP_011544248.1:p.Leu605=
XM_011545947.1:c.1815A= XP_011544249.1:p.Leu605=
XM_011545948.1:c.924A= XP_011544250.1:p.Leu308=
XR_950851.1:n.2605A=
XM_011545946.2:c.1815A= XP_011544248.1:p.Leu605=
XM_011545947.2:c.1815A= XP_011544249.1:p.Leu605=
XM_011545948.2:c.924A= XP_011544250.1:p.Leu308=
XM_017023671.1:c.1815A= XP_016879160.1:p.Leu605=
XM_017023672.2:c.1809A= XP_016879161.1:p.Leu603=
XM_017023673.2:c.1809A= XP_016879162.1:p.Leu603=
NM_024675.4:c.1809A= MANE Select NP_078951.2:p.Leu603=