Canonical Allele Identifier: CA658658446

Gene: PALB2

Linked Data

• ClinVar Variation Id: 486002
• ClinVar RCV Id: RCV000570602
• dbSNP Id: rs1555461795
• MyVariant Identifiers: chr16:g.23647420_23647422del (hg19) ; chr16:g.23636099_23636101del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636102_23636104del , CM000678.2:g.23636102_23636104del	GRCh38
NC_000016.9:g.23647423_23647425del , CM000678.1:g.23647423_23647425del	GRCh37
NC_000016.8:g.23554924_23554926del	NCBI36
NG_007406.1:g.10257_10259del , LRG_308:g.10257_10259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.451_453del	ENSP00000460666.3:p.Lys151del
ENST00000565038.2:c.211+1749_211+1751del	ENSP00000459882.2:n.211+1749_211+1751del
ENST00000566069.6:c.445_447del	ENSP00000459237.2:p.Lys149del
ENST00000697377.2:c.451_453del	ENSP00000513286.2:p.Lys151del
ENST00000697379.2:c.451_453del	ENSP00000513287.2:p.Lys151del
ENST00000561514.2:c.-441_-439del	ENSP00000460666.2:n.-441_-439del
ENST00000697374.1:c.-441_-439del	ENSP00000513284.1:n.-441_-439del
ENST00000697375.1:n.1792_1794del
ENST00000697376.1:c.-441_-439del	ENSP00000513285.1:n.-441_-439del
ENST00000697377.1:c.-441_-439del	ENSP00000513286.1:n.-441_-439del
ENST00000697378.1:n.965_967del
ENST00000697379.1:c.-441_-439del	ENSP00000513287.1:n.-441_-439del
ENST00000697382.1:c.-441_-439del	ENSP00000513288.1:n.-441_-439del
ENST00000697383.1:c.48+5009_48+5011del	ENSP00000513289.1:n.48+5009_48+5011del
ENST00000697384.1:n.599_601del
ENST00000261584.9:c.445_447del MANE Select	ENSP00000261584.4:p.Lys149del
ENST00000261584.8:c.445_447del	ENSP00000261584.4:p.Lys149del
ENST00000565038.1:c.86+1749_86+1751del
ENST00000567003.1:n.723_725del
ENST00000568219.5:c.-441_-439del	ENSP00000454703.2:n.-441_-439del
NM_024675.3:c.445_447del , LRG_308t1:c.445_447del	NP_078951.2:p.Lys149del
XM_011545946.1:c.451_453del	XP_011544248.1:p.Lys151del
XM_011545947.1:c.451_453del	XP_011544249.1:p.Lys151del
XM_011545948.1:c.-441_-439del	XP_011544250.1:n.-441_-439del
XR_950851.1:n.1241_1243del
XM_011545946.2:c.451_453del	XP_011544248.1:p.Lys151del
XM_011545947.2:c.451_453del	XP_011544249.1:p.Lys151del
XM_011545948.2:c.-441_-439del	XP_011544250.1:n.-441_-439del
XM_017023671.1:c.451_453del	XP_016879160.1:p.Lys151del
XM_017023672.2:c.445_447del	XP_016879161.1:p.Lys149del
XM_017023673.2:c.445_447del	XP_016879162.1:p.Lys149del
NM_024675.4:c.445_447del MANE Select	NP_078951.2:p.Lys149del