Canonical Allele Identifier: CA494462159

Gene: PALB2

Linked Data

• ClinVar Variation Id: 480243
• ClinVar RCV Id: RCV000573816 ; RCV001030181 ; RCV001865724 ; RCV003409833
• dbSNP Id: rs1555461597
• COSMIC: COSM1376815
• MyVariant Identifiers: chr16:g.23647028del (hg19) ; chr16:g.23635707del (hg38)
• ERepo: CA494462159/MONDO:0016419/020

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635712del , CM000678.2:g.23635712del	GRCh38
NC_000016.9:g.23647033del , CM000678.1:g.23647033del	GRCh37
NC_000016.8:g.23554534del	NCBI36
NG_007406.1:g.10651del , LRG_308:g.10651del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.845del	ENSP00000460666.3:p.Asn282ThrfsTer8
ENST00000565038.2:c.211+2143del	ENSP00000459882.2:n.211+2143del
ENST00000566069.6:c.839del	ENSP00000459237.2:p.Asn280ThrfsTer8
ENST00000697377.2:c.845del	ENSP00000513286.2:p.Asn282ThrfsTer8
ENST00000697379.2:c.845del	ENSP00000513287.2:p.Asn282ThrfsTer8
ENST00000561514.2:c.-47del	ENSP00000460666.2:n.-47del
ENST00000697374.1:c.-47del	ENSP00000513284.1:n.-47del
ENST00000697375.1:n.2186del
ENST00000697376.1:c.-47del	ENSP00000513285.1:n.-47del
ENST00000697377.1:c.-47del	ENSP00000513286.1:n.-47del
ENST00000697378.1:n.1359del
ENST00000697379.1:c.-47del	ENSP00000513287.1:n.-47del
ENST00000697382.1:c.-47del	ENSP00000513288.1:n.-47del
ENST00000697383.1:c.48+5403del	ENSP00000513289.1:n.48+5403del
ENST00000697384.1:n.993del
ENST00000261584.9:c.839del MANE Select	ENSP00000261584.4:p.Asn280ThrfsTer8
ENST00000261584.8:c.839del	ENSP00000261584.4:p.Asn280ThrfsTer8
ENST00000565038.1:c.86+2143del
ENST00000568219.5:c.-47del	ENSP00000454703.2:n.-47del
NM_024675.3:c.839del , LRG_308t1:c.839del	NP_078951.2:p.Asn280ThrfsTer8
XM_011545946.1:c.845del	XP_011544248.1:p.Asn282ThrfsTer8
XM_011545947.1:c.845del	XP_011544249.1:p.Asn282ThrfsTer8
XM_011545948.1:c.-47del	XP_011544250.1:n.-47del
XR_950851.1:n.1635del
XM_011545946.2:c.845del	XP_011544248.1:p.Asn282ThrfsTer8
XM_011545947.2:c.845del	XP_011544249.1:p.Asn282ThrfsTer8
XM_011545948.2:c.-47del	XP_011544250.1:n.-47del
XM_017023671.1:c.845del	XP_016879160.1:p.Asn282ThrfsTer8
XM_017023672.2:c.839del	XP_016879161.1:p.Asn280ThrfsTer8
XM_017023673.2:c.839del	XP_016879162.1:p.Asn280ThrfsTer8
NM_024675.4:c.839del MANE Select	NP_078951.2:p.Asn280ThrfsTer8