Canonical Allele Identifier: CA395138220

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603605T>C , CM000678.2:g.23603605T>C	GRCh38
NC_000016.9:g.23614926T>C , CM000678.1:g.23614926T>C	GRCh37
NC_000016.8:g.23522427T>C	NCBI36
NG_007406.1:g.42753A>G , LRG_308:g.42753A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.3415A>G MANE Select	NP_078951.2:p.Ile1139Val
ENST00000261584.9:c.3415A>G MANE Select	ENSP00000261584.4:p.Ile1139Val
NM_024675.3:c.3415A>G , LRG_308t1:c.3415A>G	NP_078951.2:p.Ile1139Val
ENST00000261584.8:c.3415A>G	ENSP00000261584.4:p.Ile1139Val
ENST00000561514.2:c.2530A>G	ENSP00000460666.2:p.Ile844Val
ENST00000561514.3:c.3421A>G	ENSP00000460666.3:p.Ile1141Val
ENST00000565038.2:c.*900A>G	ENSP00000459882.2:n.*900A>G
ENST00000566069.5:c.181A>G
ENST00000566069.6:c.*50A>G	ENSP00000459237.2:n.*50A>G
ENST00000568219.5:c.2530A>G	ENSP00000454703.2:p.Ile844Val
ENST00000697374.1:c.2530A>G	ENSP00000513284.1:p.Ile844Val
ENST00000697375.1:n.4762A>G
ENST00000697376.1:c.*50A>G	ENSP00000513285.1:n.*50A>G
ENST00000697377.1:c.2368A>G	ENSP00000513286.1:p.Ile790Val
ENST00000697377.2:c.3259A>G	ENSP00000513286.2:p.Ile1087Val
ENST00000697378.1:n.3935A>G
ENST00000697379.1:c.2530A>G	ENSP00000513287.1:p.Ile844Val
ENST00000697379.2:c.3421A>G	ENSP00000513287.2:p.Ile1141Val
ENST00000697380.1:n.2619A>G
ENST00000697381.1:n.2110A>G
ENST00000697382.1:c.*192A>G	ENSP00000513288.1:n.*192A>G
ENST00000697383.1:c.949A>G	ENSP00000513289.1:p.Ile317Val
XM_011545946.1:c.3421A>G	XP_011544248.1:p.Ile1141Val
XM_011545946.2:c.3421A>G	XP_011544248.1:p.Ile1141Val
XM_011545947.1:c.*50A>G	XP_011544249.1:n.*50A>G
XM_011545947.2:c.*50A>G	XP_011544249.1:n.*50A>G
XM_011545948.1:c.2530A>G	XP_011544250.1:p.Ile844Val
XM_011545948.2:c.2530A>G	XP_011544250.1:p.Ile844Val
XM_017023671.1:c.3184A>G	XP_016879160.1:p.Ile1062Val
XM_017023672.2:c.3178A>G	XP_016879161.1:p.Ile1060Val
XM_017023673.2:c.*50A>G	XP_016879162.1:n.*50A>G
XR_950851.1:n.4123A>G