Canonical Allele Identifier: CA2580613448

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1992923
• ClinVar RCV Id: RCV002796291

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607971_23607974del , CM000678.2:g.23607971_23607974del	GRCh38
NC_000016.9:g.23619292_23619295del , CM000678.1:g.23619292_23619295del	GRCh37
NC_000016.8:g.23526793_23526796del	NCBI36
NG_007406.1:g.38386_38389del , LRG_308:g.38386_38389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3248_3251del	ENSP00000460666.3:p.Glu1083ValfsTer13
ENST00000565038.2:c.*723_*726del	ENSP00000459882.2:n.*723_*726del
ENST00000566069.6:c.3202-4303_3202-4300del	ENSP00000459237.2:n.3202-4303_3202-4300del
ENST00000697377.2:c.3086_3089del	ENSP00000513286.2:p.Glu1029ValfsTer13
ENST00000697379.2:c.3248_3251del	ENSP00000513287.2:p.Glu1083ValfsTer13
ENST00000561514.2:c.2357_2360del	ENSP00000460666.2:p.Glu786ValfsTer13
ENST00000697374.1:c.2357_2360del	ENSP00000513284.1:p.Glu786ValfsTer13
ENST00000697375.1:n.4589_4592del
ENST00000697376.1:c.2317-4303_2317-4300del	ENSP00000513285.1:n.2317-4303_2317-4300del
ENST00000697377.1:c.2195_2198del	ENSP00000513286.1:p.Glu732ValfsTer13
ENST00000697378.1:n.3762_3765del
ENST00000697379.1:c.2357_2360del	ENSP00000513287.1:p.Glu786ValfsTer13
ENST00000697380.1:n.2446_2449del
ENST00000697381.1:n.1937_1940del
ENST00000697382.1:c.*19_*22del	ENSP00000513288.1:n.*19_*22del
ENST00000697383.1:c.776_779del	ENSP00000513289.1:p.Glu259ValfsTer13
ENST00000261584.9:c.3242_3245del MANE Select	ENSP00000261584.4:p.Glu1081ValfsTer13
ENST00000261584.8:c.3242_3245del	ENSP00000261584.4:p.Glu1081ValfsTer13
ENST00000566069.5:c.117-4303_117-4300del
ENST00000568219.5:c.2357_2360del	ENSP00000454703.2:p.Glu786ValfsTer13
NM_024675.3:c.3242_3245del , LRG_308t1:c.3242_3245del	NP_078951.2:p.Glu1081ValfsTer13
XM_011545946.1:c.3248_3251del	XP_011544248.1:p.Glu1083ValfsTer13
XM_011545947.1:c.3208-4303_3208-4300del	XP_011544249.1:n.3208-4303_3208-4300del
XM_011545948.1:c.2357_2360del	XP_011544250.1:p.Glu786ValfsTer13
XR_950851.1:n.3950_3953del
XM_011545946.2:c.3248_3251del	XP_011544248.1:p.Glu1083ValfsTer13
XM_011545947.2:c.3208-4303_3208-4300del	XP_011544249.1:n.3208-4303_3208-4300del
XM_011545948.2:c.2357_2360del	XP_011544250.1:p.Glu786ValfsTer13
XM_017023671.1:c.3120-4303_3120-4300del	XP_016879160.1:n.3120-4303_3120-4300del
XM_017023672.2:c.3114-4303_3114-4300del	XP_016879161.1:n.3114-4303_3114-4300del
XM_017023673.2:c.3202-4303_3202-4300del	XP_016879162.1:n.3202-4303_3202-4300del
NM_024675.4:c.3242_3245del MANE Select	NP_078951.2:p.Glu1081ValfsTer13