Canonical Allele Identifier: CA658798576

Gene: PALB2

Linked Data

• ClinVar Variation Id: 530189
• ClinVar RCV Id: RCV000635908 ; RCV000657454 ; RCV002507076
• dbSNP Id: rs1555460334
• MyVariant Identifiers: chr16:g.23641044_23641045del (hg19) ; chr16:g.23629723_23629724del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629724_23629725del , CM000678.2:g.23629724_23629725del	GRCh38
NC_000016.9:g.23641045_23641046del , CM000678.1:g.23641045_23641046del	GRCh37
NC_000016.8:g.23548546_23548547del	NCBI36
NG_007406.1:g.16634_16635del , LRG_308:g.16634_16635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2436_2437del	ENSP00000460666.3:p.Pro813ThrfsTer3
ENST00000565038.2:c.212-449_212-448del	ENSP00000459882.2:n.212-449_212-448del
ENST00000566069.6:c.2430_2431del	ENSP00000459237.2:p.Pro811ThrfsTer3
ENST00000697377.2:c.2436_2437del	ENSP00000513286.2:p.Pro813ThrfsTer3
ENST00000697379.2:c.2436_2437del	ENSP00000513287.2:p.Pro813ThrfsTer3
ENST00000561514.2:c.1545_1546del	ENSP00000460666.2:p.Pro516ThrfsTer3
ENST00000697374.1:c.1545_1546del	ENSP00000513284.1:p.Pro516ThrfsTer3
ENST00000697375.1:n.3777_3778del
ENST00000697376.1:c.1545_1546del	ENSP00000513285.1:p.Pro516ThrfsTer3
ENST00000697377.1:c.1545_1546del	ENSP00000513286.1:p.Pro516ThrfsTer3
ENST00000697378.1:n.2950_2951del
ENST00000697379.1:c.1545_1546del	ENSP00000513287.1:p.Pro516ThrfsTer3
ENST00000697380.1:n.1358_1359del
ENST00000697381.1:n.1125_1126del
ENST00000697382.1:c.1545_1546del	ENSP00000513288.1:p.Pro516ThrfsTer3
ENST00000697383.1:c.49-449_49-448del	ENSP00000513289.1:n.49-449_49-448del
ENST00000697384.1:n.2584_2585del
ENST00000261584.9:c.2430_2431del MANE Select	ENSP00000261584.4:p.Pro811ThrfsTer3
ENST00000261584.8:c.2430_2431del	ENSP00000261584.4:p.Pro811ThrfsTer3
ENST00000565038.1:c.87-449_87-448del
ENST00000568219.5:c.1545_1546del	ENSP00000454703.2:p.Pro516ThrfsTer3
NM_024675.3:c.2430_2431del , LRG_308t1:c.2430_2431del	NP_078951.2:p.Pro811ThrfsTer3
XM_011545946.1:c.2436_2437del	XP_011544248.1:p.Pro813ThrfsTer3
XM_011545947.1:c.2436_2437del	XP_011544249.1:p.Pro813ThrfsTer3
XM_011545948.1:c.1545_1546del	XP_011544250.1:p.Pro516ThrfsTer3
XR_950851.1:n.3226_3227del
XM_011545946.2:c.2436_2437del	XP_011544248.1:p.Pro813ThrfsTer3
XM_011545947.2:c.2436_2437del	XP_011544249.1:p.Pro813ThrfsTer3
XM_011545948.2:c.1545_1546del	XP_011544250.1:p.Pro516ThrfsTer3
XM_017023671.1:c.2436_2437del	XP_016879160.1:p.Pro813ThrfsTer3
XM_017023672.2:c.2430_2431del	XP_016879161.1:p.Pro811ThrfsTer3
XM_017023673.2:c.2430_2431del	XP_016879162.1:p.Pro811ThrfsTer3
NM_024675.4:c.2430_2431del MANE Select	NP_078951.2:p.Pro811ThrfsTer3