Canonical Allele Identifier: CA2825002431

Gene: PALB2

Linked Data

• ClinVar Variation Id: 3228036
• ClinVar RCV Id: RCV004517780

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636097_23636101del , CM000678.2:g.23636097_23636101del	GRCh38
NC_000016.9:g.23647418_23647422del , CM000678.1:g.23647418_23647422del	GRCh37
NC_000016.8:g.23554919_23554923del	NCBI36
NG_007406.1:g.10257_10261del , LRG_308:g.10257_10261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.451_455del	ENSP00000460666.3:p.Lys151AlafsTer17
ENST00000565038.2:c.211+1749_211+1753del	ENSP00000459882.2:n.211+1749_211+1753del
ENST00000566069.6:c.445_449del	ENSP00000459237.2:p.Lys149AlafsTer17
ENST00000697377.2:c.451_455del	ENSP00000513286.2:p.Lys151AlafsTer17
ENST00000697379.2:c.451_455del	ENSP00000513287.2:p.Lys151AlafsTer17
ENST00000561514.2:c.-441_-437del	ENSP00000460666.2:n.-441_-437del
ENST00000697374.1:c.-441_-437del	ENSP00000513284.1:n.-441_-437del
ENST00000697375.1:n.1792_1796del
ENST00000697376.1:c.-441_-437del	ENSP00000513285.1:n.-441_-437del
ENST00000697377.1:c.-441_-437del	ENSP00000513286.1:n.-441_-437del
ENST00000697378.1:n.965_969del
ENST00000697379.1:c.-441_-437del	ENSP00000513287.1:n.-441_-437del
ENST00000697382.1:c.-441_-437del	ENSP00000513288.1:n.-441_-437del
ENST00000697383.1:c.48+5009_48+5013del	ENSP00000513289.1:n.48+5009_48+5013del
ENST00000697384.1:n.599_603del
ENST00000261584.9:c.445_449del MANE Select	ENSP00000261584.4:p.Lys149AlafsTer17
ENST00000261584.8:c.445_449del	ENSP00000261584.4:p.Lys149AlafsTer17
ENST00000565038.1:c.86+1749_86+1753del
ENST00000567003.1:n.723_727del
ENST00000568219.5:c.-441_-437del	ENSP00000454703.2:n.-441_-437del
NM_024675.3:c.445_449del , LRG_308t1:c.445_449del	NP_078951.2:p.Lys149AlafsTer17
XM_011545946.1:c.451_455del	XP_011544248.1:p.Lys151AlafsTer17
XM_011545947.1:c.451_455del	XP_011544249.1:p.Lys151AlafsTer17
XM_011545948.1:c.-441_-437del	XP_011544250.1:n.-441_-437del
XR_950851.1:n.1241_1245del
XM_011545946.2:c.451_455del	XP_011544248.1:p.Lys151AlafsTer17
XM_011545947.2:c.451_455del	XP_011544249.1:p.Lys151AlafsTer17
XM_011545948.2:c.-441_-437del	XP_011544250.1:n.-441_-437del
XM_017023671.1:c.451_455del	XP_016879160.1:p.Lys151AlafsTer17
XM_017023672.2:c.445_449del	XP_016879161.1:p.Lys149AlafsTer17
XM_017023673.2:c.445_449del	XP_016879162.1:p.Lys149AlafsTer17
NM_024675.4:c.445_449del MANE Select	NP_078951.2:p.Lys149AlafsTer17