Canonical Allele Identifier: CA2499223399

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1255697
• ClinVar RCV Id: RCV001644558 ; RCV001799113 ; RCV002458557 ; RCV003451836
• dbSNP Id: rs2142252781

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603540del , CM000678.2:g.23603540del	GRCh38
NC_000016.9:g.23614861del , CM000678.1:g.23614861del	GRCh37
NC_000016.8:g.23522362del	NCBI36
NG_007406.1:g.42821del , LRG_308:g.42821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3489del	ENSP00000460666.3:p.Phe1163LeufsTer2
ENST00000565038.2:c.*968del	ENSP00000459882.2:n.*968del
ENST00000566069.6:c.*118del	ENSP00000459237.2:n.*118del
ENST00000697377.2:c.3327del	ENSP00000513286.2:p.Phe1109LeufsTer2
ENST00000697379.2:c.3489del	ENSP00000513287.2:p.Phe1163LeufsTer2
ENST00000561514.2:c.2598del	ENSP00000460666.2:p.Phe866LeufsTer2
ENST00000697374.1:c.2598del	ENSP00000513284.1:p.Phe866LeufsTer2
ENST00000697375.1:n.4830del
ENST00000697376.1:c.*118del	ENSP00000513285.1:n.*118del
ENST00000697377.1:c.2436del	ENSP00000513286.1:p.Phe812LeufsTer2
ENST00000697378.1:n.4003del
ENST00000697379.1:c.2598del	ENSP00000513287.1:p.Phe866LeufsTer2
ENST00000697380.1:n.2687del
ENST00000697381.1:n.2178del
ENST00000697382.1:c.*260del	ENSP00000513288.1:n.*260del
ENST00000697383.1:c.1017del	ENSP00000513289.1:p.Phe339LeufsTer2
ENST00000261584.9:c.3483del MANE Select	ENSP00000261584.4:p.Phe1161LeufsTer2
ENST00000261584.8:c.3483del	ENSP00000261584.4:p.Phe1161LeufsTer2
ENST00000566069.5:c.249del
ENST00000568219.5:c.2598del	ENSP00000454703.2:p.Phe866LeufsTer2
NM_024675.3:c.3483del , LRG_308t1:c.3483del	NP_078951.2:p.Phe1161LeufsTer2
XM_011545946.1:c.3489del	XP_011544248.1:p.Phe1163LeufsTer2
XM_011545947.1:c.*118del	XP_011544249.1:n.*118del
XM_011545948.1:c.2598del	XP_011544250.1:p.Phe866LeufsTer2
XR_950851.1:n.4191del
XM_011545946.2:c.3489del	XP_011544248.1:p.Phe1163LeufsTer2
XM_011545947.2:c.*118del	XP_011544249.1:n.*118del
XM_011545948.2:c.2598del	XP_011544250.1:p.Phe866LeufsTer2
XM_017023671.1:c.3252del	XP_016879160.1:p.Phe1084LeufsTer2
XM_017023672.2:c.3246del	XP_016879161.1:p.Phe1082LeufsTer2
XM_017023673.2:c.*118del	XP_016879162.1:n.*118del
NM_024675.4:c.3483del MANE Select	NP_078951.2:p.Phe1161LeufsTer2