Canonical Allele Identifier: CA915949197

Gene: PALB2

Linked Data

• ClinVar Variation Id: 819798
• ClinVar RCV Id: RCV001012680 ; RCV001030255 ; RCV001225385
• dbSNP Id: rs1597091471

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630458_23630460del , CM000678.2:g.23630458_23630460del	GRCh38
NC_000016.9:g.23641779_23641781del , CM000678.1:g.23641779_23641781del	GRCh37
NC_000016.8:g.23549280_23549282del	NCBI36
NG_007406.1:g.15901_15903del , LRG_308:g.15901_15903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1703_1705del	ENSP00000460666.3:p.Arg568del
ENST00000565038.2:c.212-1182_212-1180del	ENSP00000459882.2:n.212-1182_212-1180del
ENST00000566069.6:c.1697_1699del	ENSP00000459237.2:p.Arg566del
ENST00000697377.2:c.1703_1705del	ENSP00000513286.2:p.Arg568del
ENST00000697379.2:c.1703_1705del	ENSP00000513287.2:p.Arg568del
ENST00000561514.2:c.812_814del	ENSP00000460666.2:p.Arg271del
ENST00000697374.1:c.812_814del	ENSP00000513284.1:p.Arg271del
ENST00000697375.1:n.3044_3046del
ENST00000697376.1:c.812_814del	ENSP00000513285.1:p.Arg271del
ENST00000697377.1:c.812_814del	ENSP00000513286.1:p.Arg271del
ENST00000697378.1:n.2217_2219del
ENST00000697379.1:c.812_814del	ENSP00000513287.1:p.Arg271del
ENST00000697380.1:n.625_627del
ENST00000697381.1:n.392_394del
ENST00000697382.1:c.812_814del	ENSP00000513288.1:p.Arg271del
ENST00000697383.1:c.49-1182_49-1180del	ENSP00000513289.1:n.49-1182_49-1180del
ENST00000697384.1:n.1851_1853del
ENST00000261584.9:c.1697_1699del MANE Select	ENSP00000261584.4:p.Arg566del
ENST00000261584.8:c.1697_1699del	ENSP00000261584.4:p.Arg566del
ENST00000565038.1:c.87-1182_87-1180del
ENST00000568219.5:c.812_814del	ENSP00000454703.2:p.Arg271del
NM_024675.3:c.1697_1699del , LRG_308t1:c.1697_1699del	NP_078951.2:p.Arg566del
XM_011545946.1:c.1703_1705del	XP_011544248.1:p.Arg568del
XM_011545947.1:c.1703_1705del	XP_011544249.1:p.Arg568del
XM_011545948.1:c.812_814del	XP_011544250.1:p.Arg271del
XR_950851.1:n.2493_2495del
XM_011545946.2:c.1703_1705del	XP_011544248.1:p.Arg568del
XM_011545947.2:c.1703_1705del	XP_011544249.1:p.Arg568del
XM_011545948.2:c.812_814del	XP_011544250.1:p.Arg271del
XM_017023671.1:c.1703_1705del	XP_016879160.1:p.Arg568del
XM_017023672.2:c.1697_1699del	XP_016879161.1:p.Arg566del
XM_017023673.2:c.1697_1699del	XP_016879162.1:p.Arg566del
NM_024675.4:c.1697_1699del MANE Select	NP_078951.2:p.Arg566del