Canonical Allele Identifier: CA891844528

Gene: PALB2

Linked Data

• ClinVar Variation Id: 569659
• ClinVar RCV Id: RCV000690347
• dbSNP Id: rs1567221851
• MyVariant Identifiers: chr16:g.23646871_23646872del (hg19) ; chr16:g.23635550_23635551del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635551_23635552del , CM000678.2:g.23635551_23635552del	GRCh38
NC_000016.9:g.23646872_23646873del , CM000678.1:g.23646872_23646873del	GRCh37
NC_000016.8:g.23554373_23554374del	NCBI36
NG_007406.1:g.10807_10808del , LRG_308:g.10807_10808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1001_1002del	ENSP00000460666.3:p.Leu334HisfsTer4
ENST00000565038.2:c.211+2299_211+2300del	ENSP00000459882.2:n.211+2299_211+2300del
ENST00000566069.6:c.995_996del	ENSP00000459237.2:p.Leu332HisfsTer4
ENST00000697377.2:c.1001_1002del	ENSP00000513286.2:p.Leu334HisfsTer4
ENST00000697379.2:c.1001_1002del	ENSP00000513287.2:p.Leu334HisfsTer4
ENST00000561514.2:c.110_111del	ENSP00000460666.2:p.Leu37HisfsTer4
ENST00000697374.1:c.110_111del	ENSP00000513284.1:p.Leu37HisfsTer4
ENST00000697375.1:n.2342_2343del
ENST00000697376.1:c.110_111del	ENSP00000513285.1:p.Leu37HisfsTer4
ENST00000697377.1:c.110_111del	ENSP00000513286.1:p.Leu37HisfsTer4
ENST00000697378.1:n.1515_1516del
ENST00000697379.1:c.110_111del	ENSP00000513287.1:p.Leu37HisfsTer4
ENST00000697382.1:c.110_111del	ENSP00000513288.1:p.Leu37HisfsTer4
ENST00000697383.1:c.48+5559_48+5560del	ENSP00000513289.1:n.48+5559_48+5560del
ENST00000697384.1:n.1149_1150del
ENST00000261584.9:c.995_996del MANE Select	ENSP00000261584.4:p.Leu332HisfsTer4
ENST00000261584.8:c.995_996del	ENSP00000261584.4:p.Leu332HisfsTer4
ENST00000565038.1:c.86+2299_86+2300del
ENST00000568219.5:c.110_111del	ENSP00000454703.2:p.Leu37HisfsTer4
NM_024675.3:c.995_996del , LRG_308t1:c.995_996del	NP_078951.2:p.Leu332HisfsTer4
XM_011545946.1:c.1001_1002del	XP_011544248.1:p.Leu334HisfsTer4
XM_011545947.1:c.1001_1002del	XP_011544249.1:p.Leu334HisfsTer4
XM_011545948.1:c.110_111del	XP_011544250.1:p.Leu37HisfsTer4
XR_950851.1:n.1791_1792del
XM_011545946.2:c.1001_1002del	XP_011544248.1:p.Leu334HisfsTer4
XM_011545947.2:c.1001_1002del	XP_011544249.1:p.Leu334HisfsTer4
XM_011545948.2:c.110_111del	XP_011544250.1:p.Leu37HisfsTer4
XM_017023671.1:c.1001_1002del	XP_016879160.1:p.Leu334HisfsTer4
XM_017023672.2:c.995_996del	XP_016879161.1:p.Leu332HisfsTer4
XM_017023673.2:c.995_996del	XP_016879162.1:p.Leu332HisfsTer4
NM_024675.4:c.995_996del MANE Select	NP_078951.2:p.Leu332HisfsTer4