Canonical Allele Identifier: CA2575946590

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636140del , CM000678.2:g.23636140del	GRCh38
NC_000016.9:g.23647461del , CM000678.1:g.23647461del	GRCh37
NC_000016.8:g.23554962del	NCBI36
NG_007406.1:g.10218del , LRG_308:g.10218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.412del	ENSP00000460666.3:p.Ser138ValfsTer?
ENST00000565038.2:c.211+1710del	ENSP00000459882.2:n.211+1710del
ENST00000566069.6:c.406del	ENSP00000459237.2:p.Ser136ValfsTer?
ENST00000697377.2:c.412del	ENSP00000513286.2:p.Ser138ValfsTer?
ENST00000697379.2:c.412del	ENSP00000513287.2:p.Ser138ValfsTer?
ENST00000561514.2:c.-480del	ENSP00000460666.2:n.-480del
ENST00000697374.1:c.-480del	ENSP00000513284.1:n.-480del
ENST00000697375.1:n.1753del
ENST00000697376.1:c.-480del	ENSP00000513285.1:n.-480del
ENST00000697377.1:c.-480del	ENSP00000513286.1:n.-480del
ENST00000697378.1:n.926del
ENST00000697379.1:c.-480del	ENSP00000513287.1:n.-480del
ENST00000697382.1:c.-480del	ENSP00000513288.1:n.-480del
ENST00000697383.1:c.48+4970del	ENSP00000513289.1:n.48+4970del
ENST00000697384.1:n.560del
ENST00000261584.9:c.406del MANE Select	ENSP00000261584.4:p.Ser136ValfsTer?
ENST00000261584.8:c.406del	ENSP00000261584.4:p.Ser136ValfsTer?
ENST00000565038.1:c.86+1710del
ENST00000567003.1:n.684del
ENST00000568219.5:c.-480del	ENSP00000454703.2:n.-480del
NM_024675.3:c.406del , LRG_308t1:c.406del	NP_078951.2:p.Ser136ValfsTer?
XM_011545946.1:c.412del	XP_011544248.1:p.Ser138ValfsTer?
XM_011545947.1:c.412del	XP_011544249.1:p.Ser138ValfsTer?
XM_011545948.1:c.-480del	XP_011544250.1:n.-480del
XR_950851.1:n.1202del
XM_011545946.2:c.412del	XP_011544248.1:p.Ser138ValfsTer?
XM_011545947.2:c.412del	XP_011544249.1:p.Ser138ValfsTer?
XM_011545948.2:c.-480del	XP_011544250.1:n.-480del
XM_017023671.1:c.412del	XP_016879160.1:p.Ser138ValfsTer?
XM_017023672.2:c.406del	XP_016879161.1:p.Ser136ValfsTer?
XM_017023673.2:c.406del	XP_016879162.1:p.Ser136ValfsTer?
NM_024675.4:c.406del MANE Select	NP_078951.2:p.Ser136ValfsTer?