Canonical Allele Identifier: CA658658435

Gene: PALB2

Linked Data

• ClinVar Variation Id: 461036
• ClinVar RCV Id: RCV000553727
• dbSNP Id: rs1555461514
• MyVariant Identifiers: chr16:g.23646881_23646882del (hg19) ; chr16:g.23635560_23635561del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635563_23635564del , CM000678.2:g.23635563_23635564del	GRCh38
NC_000016.9:g.23646884_23646885del , CM000678.1:g.23646884_23646885del	GRCh37
NC_000016.8:g.23554385_23554386del	NCBI36
NG_007406.1:g.10797_10798del , LRG_308:g.10797_10798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.991_992del	ENSP00000460666.3:p.Leu331LysfsTer2
ENST00000565038.2:c.211+2289_211+2290del	ENSP00000459882.2:n.211+2289_211+2290del
ENST00000566069.6:c.985_986del	ENSP00000459237.2:p.Leu329LysfsTer2
ENST00000697377.2:c.991_992del	ENSP00000513286.2:p.Leu331LysfsTer2
ENST00000697379.2:c.991_992del	ENSP00000513287.2:p.Leu331LysfsTer2
ENST00000561514.2:c.100_101del	ENSP00000460666.2:p.Leu34LysfsTer2
ENST00000697374.1:c.100_101del	ENSP00000513284.1:p.Leu34LysfsTer2
ENST00000697375.1:n.2332_2333del
ENST00000697376.1:c.100_101del	ENSP00000513285.1:p.Leu34LysfsTer2
ENST00000697377.1:c.100_101del	ENSP00000513286.1:p.Leu34LysfsTer2
ENST00000697378.1:n.1505_1506del
ENST00000697379.1:c.100_101del	ENSP00000513287.1:p.Leu34LysfsTer2
ENST00000697382.1:c.100_101del	ENSP00000513288.1:p.Leu34LysfsTer2
ENST00000697383.1:c.48+5549_48+5550del	ENSP00000513289.1:n.48+5549_48+5550del
ENST00000697384.1:n.1139_1140del
ENST00000261584.9:c.985_986del MANE Select	ENSP00000261584.4:p.Leu329LysfsTer2
ENST00000261584.8:c.985_986del	ENSP00000261584.4:p.Leu329LysfsTer2
ENST00000565038.1:c.86+2289_86+2290del
ENST00000568219.5:c.100_101del	ENSP00000454703.2:p.Leu34LysfsTer2
NM_024675.3:c.985_986del , LRG_308t1:c.985_986del	NP_078951.2:p.Leu329LysfsTer2
XM_011545946.1:c.991_992del	XP_011544248.1:p.Leu331LysfsTer2
XM_011545947.1:c.991_992del	XP_011544249.1:p.Leu331LysfsTer2
XM_011545948.1:c.100_101del	XP_011544250.1:p.Leu34LysfsTer2
XR_950851.1:n.1781_1782del
XM_011545946.2:c.991_992del	XP_011544248.1:p.Leu331LysfsTer2
XM_011545947.2:c.991_992del	XP_011544249.1:p.Leu331LysfsTer2
XM_011545948.2:c.100_101del	XP_011544250.1:p.Leu34LysfsTer2
XM_017023671.1:c.991_992del	XP_016879160.1:p.Leu331LysfsTer2
XM_017023672.2:c.985_986del	XP_016879161.1:p.Leu329LysfsTer2
XM_017023673.2:c.985_986del	XP_016879162.1:p.Leu329LysfsTer2
NM_024675.4:c.985_986del MANE Select	NP_078951.2:p.Leu329LysfsTer2