Canonical Allele Identifier: CA3252641212

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23637888_23637890del , CM000678.2:g.23637888_23637890del	GRCh38
NC_000016.9:g.23649209_23649211del , CM000678.1:g.23649209_23649211del	GRCh37
NC_000016.8:g.23556710_23556712del	NCBI36
NG_007406.1:g.8468_8470del , LRG_308:g.8468_8470del

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.171_173del MANE Select	NP_078951.2:p.Cys57_Leu58delinsTrp
ENST00000261584.9:c.171_173del MANE Select	ENSP00000261584.4:p.Cys57_Leu58delinsTrp
NM_024675.3:c.171_173del , LRG_308t1:c.171_173del	NP_078951.2:p.Cys57_Leu58delinsTrp
ENST00000261584.8:c.171_173del	ENSP00000261584.4:p.Cys57_Leu58delinsTrp
ENST00000561514.1:c.177_179del	ENSP00000460666.1:p.Cys59_Leu60delinsTrp
ENST00000561514.2:c.-715_-713del	ENSP00000460666.2:n.-715_-713del
ENST00000561514.3:c.177_179del	ENSP00000460666.3:p.Cys59_Leu60delinsTrp
ENST00000565038.1:c.46_48del
ENST00000565038.2:c.171_173del	ENSP00000459882.2:p.Cys57_Leu58delinsTrp
ENST00000566069.6:c.171_173del	ENSP00000459237.2:p.Cys57_Leu58delinsTrp
ENST00000567003.1:n.449_451del
ENST00000568219.5:c.-715_-713del	ENSP00000454703.2:n.-715_-713del
ENST00000697374.1:c.-715_-713del	ENSP00000513284.1:n.-715_-713del
ENST00000697375.1:n.1518_1520del
ENST00000697376.1:c.-715_-713del	ENSP00000513285.1:n.-715_-713del
ENST00000697377.1:c.-715_-713del	ENSP00000513286.1:n.-715_-713del
ENST00000697377.2:c.177_179del	ENSP00000513286.2:p.Cys59_Leu60delinsTrp
ENST00000697378.1:n.691_693del
ENST00000697379.1:c.-715_-713del	ENSP00000513287.1:n.-715_-713del
ENST00000697379.2:c.177_179del	ENSP00000513287.2:p.Cys59_Leu60delinsTrp
ENST00000697382.1:c.-715_-713del	ENSP00000513288.1:n.-715_-713del
ENST00000697383.1:c.48+3220_48+3222del	ENSP00000513289.1:n.48+3220_48+3222del
ENST00000697384.1:n.325_327del
XM_011545946.1:c.177_179del	XP_011544248.1:p.Cys59_Leu60delinsTrp
XM_011545946.2:c.177_179del	XP_011544248.1:p.Cys59_Leu60delinsTrp
XM_011545947.1:c.177_179del	XP_011544249.1:p.Cys59_Leu60delinsTrp
XM_011545947.2:c.177_179del	XP_011544249.1:p.Cys59_Leu60delinsTrp
XM_011545948.1:c.-715_-713del	XP_011544250.1:n.-715_-713del
XM_011545948.2:c.-715_-713del	XP_011544250.1:n.-715_-713del
XM_017023671.1:c.177_179del	XP_016879160.1:p.Cys59_Leu60delinsTrp
XM_017023672.2:c.171_173del	XP_016879161.1:p.Cys57_Leu58delinsTrp
XM_017023673.2:c.171_173del	XP_016879162.1:p.Cys57_Leu58delinsTrp
XR_950851.1:n.967_969del