Canonical Allele Identifier: CA2695222971

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635690del , CM000678.2:g.23635690del	GRCh38
NC_000016.9:g.23647011del , CM000678.1:g.23647011del	GRCh37
NC_000016.8:g.23554512del	NCBI36
NG_007406.1:g.10669del , LRG_308:g.10669del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.863del	ENSP00000460666.3:p.Pro288LeufsTer2
ENST00000565038.2:c.211+2161del	ENSP00000459882.2:n.211+2161del
ENST00000566069.6:c.857del	ENSP00000459237.2:p.Pro286LeufsTer2
ENST00000697377.2:c.863del	ENSP00000513286.2:p.Pro288LeufsTer2
ENST00000697379.2:c.863del	ENSP00000513287.2:p.Pro288LeufsTer2
ENST00000561514.2:c.-29del	ENSP00000460666.2:n.-29del
ENST00000697374.1:c.-29del	ENSP00000513284.1:n.-29del
ENST00000697375.1:n.2204del
ENST00000697376.1:c.-29del	ENSP00000513285.1:n.-29del
ENST00000697377.1:c.-29del	ENSP00000513286.1:n.-29del
ENST00000697378.1:n.1377del
ENST00000697379.1:c.-29del	ENSP00000513287.1:n.-29del
ENST00000697382.1:c.-29del	ENSP00000513288.1:n.-29del
ENST00000697383.1:c.48+5421del	ENSP00000513289.1:n.48+5421del
ENST00000697384.1:n.1011del
ENST00000261584.9:c.857del MANE Select	ENSP00000261584.4:p.Pro286LeufsTer2
ENST00000261584.8:c.857del	ENSP00000261584.4:p.Pro286LeufsTer2
ENST00000565038.1:c.86+2161del
ENST00000568219.5:c.-29del	ENSP00000454703.2:n.-29del
NM_024675.3:c.857del , LRG_308t1:c.857del	NP_078951.2:p.Pro286LeufsTer2
XM_011545946.1:c.863del	XP_011544248.1:p.Pro288LeufsTer2
XM_011545947.1:c.863del	XP_011544249.1:p.Pro288LeufsTer2
XM_011545948.1:c.-29del	XP_011544250.1:n.-29del
XR_950851.1:n.1653del
XM_011545946.2:c.863del	XP_011544248.1:p.Pro288LeufsTer2
XM_011545947.2:c.863del	XP_011544249.1:p.Pro288LeufsTer2
XM_011545948.2:c.-29del	XP_011544250.1:n.-29del
XM_017023671.1:c.863del	XP_016879160.1:p.Pro288LeufsTer2
XM_017023672.2:c.857del	XP_016879161.1:p.Pro286LeufsTer2
XM_017023673.2:c.857del	XP_016879162.1:p.Pro286LeufsTer2
NM_024675.4:c.857del MANE Select	NP_078951.2:p.Pro286LeufsTer2