Canonical Allele Identifier: CA2573152199

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1372900
• ClinVar RCV Id: RCV001908132 ; RCV002386638
• dbSNP Id: rs2142429230

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635559_23635560dup , CM000678.2:g.23635559_23635560dup	GRCh38
NC_000016.9:g.23646880_23646881dup , CM000678.1:g.23646880_23646881dup	GRCh37
NC_000016.8:g.23554381_23554382dup	NCBI36
NG_007406.1:g.10798_10799dup , LRG_308:g.10798_10799dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.992_993dup	ENSP00000460666.3:p.Asn332Ter
ENST00000565038.2:c.211+2290_211+2291dup	ENSP00000459882.2:n.211+2290_211+2291dup
ENST00000566069.6:c.986_987dup	ENSP00000459237.2:p.Asn330Ter
ENST00000697377.2:c.992_993dup	ENSP00000513286.2:p.Asn332Ter
ENST00000697379.2:c.992_993dup	ENSP00000513287.2:p.Asn332Ter
ENST00000561514.2:c.101_102dup	ENSP00000460666.2:p.Asn35Ter
ENST00000697374.1:c.101_102dup	ENSP00000513284.1:p.Asn35Ter
ENST00000697375.1:n.2333_2334dup
ENST00000697376.1:c.101_102dup	ENSP00000513285.1:p.Asn35Ter
ENST00000697377.1:c.101_102dup	ENSP00000513286.1:p.Asn35Ter
ENST00000697378.1:n.1506_1507dup
ENST00000697379.1:c.101_102dup	ENSP00000513287.1:p.Asn35Ter
ENST00000697382.1:c.101_102dup	ENSP00000513288.1:p.Asn35Ter
ENST00000697383.1:c.48+5550_48+5551dup	ENSP00000513289.1:n.48+5550_48+5551dup
ENST00000697384.1:n.1140_1141dup
ENST00000261584.9:c.986_987dup MANE Select	ENSP00000261584.4:p.Asn330Ter
ENST00000261584.8:c.986_987dup	ENSP00000261584.4:p.Asn330Ter
ENST00000565038.1:c.86+2290_86+2291dup
ENST00000568219.5:c.101_102dup	ENSP00000454703.2:p.Asn35Ter
NM_024675.3:c.986_987dup , LRG_308t1:c.986_987dup	NP_078951.2:p.Asn330Ter
XM_011545946.1:c.992_993dup	XP_011544248.1:p.Asn332Ter
XM_011545947.1:c.992_993dup	XP_011544249.1:p.Asn332Ter
XM_011545948.1:c.101_102dup	XP_011544250.1:p.Asn35Ter
XR_950851.1:n.1782_1783dup
XM_011545946.2:c.992_993dup	XP_011544248.1:p.Asn332Ter
XM_011545947.2:c.992_993dup	XP_011544249.1:p.Asn332Ter
XM_011545948.2:c.101_102dup	XP_011544250.1:p.Asn35Ter
XM_017023671.1:c.992_993dup	XP_016879160.1:p.Asn332Ter
XM_017023672.2:c.986_987dup	XP_016879161.1:p.Asn330Ter
XM_017023673.2:c.986_987dup	XP_016879162.1:p.Asn330Ter
NM_024675.4:c.986_987dup MANE Select	NP_078951.2:p.Asn330Ter