Canonical Allele Identifier: CA2695197542

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674178
• ClinVar RCV Id: RCV003452374

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635798_23635826del , CM000678.2:g.23635798_23635826del	GRCh38
NC_000016.9:g.23647119_23647147del , CM000678.1:g.23647119_23647147del	GRCh37
NC_000016.8:g.23554620_23554648del	NCBI36
NG_007406.1:g.10534_10562del , LRG_308:g.10534_10562del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.728_756del	ENSP00000460666.3:p.Asn243ThrfsTer6
ENST00000565038.2:c.211+2026_211+2054del	ENSP00000459882.2:n.211+2026_211+2054del
ENST00000566069.6:c.722_750del	ENSP00000459237.2:p.Asn241ThrfsTer6
ENST00000697377.2:c.728_756del	ENSP00000513286.2:p.Asn243ThrfsTer6
ENST00000697379.2:c.728_756del	ENSP00000513287.2:p.Asn243ThrfsTer6
ENST00000561514.2:c.-164_-136del	ENSP00000460666.2:n.-164_-136del
ENST00000697374.1:c.-164_-136del	ENSP00000513284.1:n.-164_-136del
ENST00000697375.1:n.2069_2097del
ENST00000697376.1:c.-164_-136del	ENSP00000513285.1:n.-164_-136del
ENST00000697377.1:c.-164_-136del	ENSP00000513286.1:n.-164_-136del
ENST00000697378.1:n.1242_1270del
ENST00000697379.1:c.-164_-136del	ENSP00000513287.1:n.-164_-136del
ENST00000697382.1:c.-164_-136del	ENSP00000513288.1:n.-164_-136del
ENST00000697383.1:c.48+5286_48+5314del	ENSP00000513289.1:n.48+5286_48+5314del
ENST00000697384.1:n.876_904del
ENST00000261584.9:c.722_750del MANE Select	ENSP00000261584.4:p.Asn241ThrfsTer6
ENST00000261584.8:c.722_750del	ENSP00000261584.4:p.Asn241ThrfsTer6
ENST00000565038.1:c.86+2026_86+2054del
ENST00000568219.5:c.-164_-136del	ENSP00000454703.2:n.-164_-136del
NM_024675.3:c.722_750del , LRG_308t1:c.722_750del	NP_078951.2:p.Asn241ThrfsTer6
XM_011545946.1:c.728_756del	XP_011544248.1:p.Asn243ThrfsTer6
XM_011545947.1:c.728_756del	XP_011544249.1:p.Asn243ThrfsTer6
XM_011545948.1:c.-164_-136del	XP_011544250.1:n.-164_-136del
XR_950851.1:n.1518_1546del
XM_011545946.2:c.728_756del	XP_011544248.1:p.Asn243ThrfsTer6
XM_011545947.2:c.728_756del	XP_011544249.1:p.Asn243ThrfsTer6
XM_011545948.2:c.-164_-136del	XP_011544250.1:n.-164_-136del
XM_017023671.1:c.728_756del	XP_016879160.1:p.Asn243ThrfsTer6
XM_017023672.2:c.722_750del	XP_016879161.1:p.Asn241ThrfsTer6
XM_017023673.2:c.722_750del	XP_016879162.1:p.Asn241ThrfsTer6
NM_024675.4:c.722_750del MANE Select	NP_078951.2:p.Asn241ThrfsTer6