Canonical Allele Identifier: CA2573152228

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1455018
• ClinVar RCV Id: RCV001942165 ; RCV002423136
• dbSNP Id: rs2142384476

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630177_23630178del , CM000678.2:g.23630177_23630178del	GRCh38
NC_000016.9:g.23641498_23641499del , CM000678.1:g.23641498_23641499del	GRCh37
NC_000016.8:g.23548999_23549000del	NCBI36
NG_007406.1:g.16180_16181del , LRG_308:g.16180_16181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1982_1983del	ENSP00000460666.3:p.Leu661GlnfsTer3
ENST00000565038.2:c.212-903_212-902del	ENSP00000459882.2:n.212-903_212-902del
ENST00000566069.6:c.1976_1977del	ENSP00000459237.2:p.Leu659GlnfsTer3
ENST00000697377.2:c.1982_1983del	ENSP00000513286.2:p.Leu661GlnfsTer3
ENST00000697379.2:c.1982_1983del	ENSP00000513287.2:p.Leu661GlnfsTer3
ENST00000561514.2:c.1091_1092del	ENSP00000460666.2:p.Leu364GlnfsTer3
ENST00000697374.1:c.1091_1092del	ENSP00000513284.1:p.Leu364GlnfsTer3
ENST00000697375.1:n.3323_3324del
ENST00000697376.1:c.1091_1092del	ENSP00000513285.1:p.Leu364GlnfsTer3
ENST00000697377.1:c.1091_1092del	ENSP00000513286.1:p.Leu364GlnfsTer3
ENST00000697378.1:n.2496_2497del
ENST00000697379.1:c.1091_1092del	ENSP00000513287.1:p.Leu364GlnfsTer3
ENST00000697380.1:n.904_905del
ENST00000697381.1:n.671_672del
ENST00000697382.1:c.1091_1092del	ENSP00000513288.1:p.Leu364GlnfsTer3
ENST00000697383.1:c.49-903_49-902del	ENSP00000513289.1:n.49-903_49-902del
ENST00000697384.1:n.2130_2131del
ENST00000261584.9:c.1976_1977del MANE Select	ENSP00000261584.4:p.Leu659GlnfsTer3
ENST00000261584.8:c.1976_1977del	ENSP00000261584.4:p.Leu659GlnfsTer3
ENST00000565038.1:c.87-903_87-902del
ENST00000568219.5:c.1091_1092del	ENSP00000454703.2:p.Leu364GlnfsTer3
NM_024675.3:c.1976_1977del , LRG_308t1:c.1976_1977del	NP_078951.2:p.Leu659GlnfsTer3
XM_011545946.1:c.1982_1983del	XP_011544248.1:p.Leu661GlnfsTer3
XM_011545947.1:c.1982_1983del	XP_011544249.1:p.Leu661GlnfsTer3
XM_011545948.1:c.1091_1092del	XP_011544250.1:p.Leu364GlnfsTer3
XR_950851.1:n.2772_2773del
XM_011545946.2:c.1982_1983del	XP_011544248.1:p.Leu661GlnfsTer3
XM_011545947.2:c.1982_1983del	XP_011544249.1:p.Leu661GlnfsTer3
XM_011545948.2:c.1091_1092del	XP_011544250.1:p.Leu364GlnfsTer3
XM_017023671.1:c.1982_1983del	XP_016879160.1:p.Leu661GlnfsTer3
XM_017023672.2:c.1976_1977del	XP_016879161.1:p.Leu659GlnfsTer3
XM_017023673.2:c.1976_1977del	XP_016879162.1:p.Leu659GlnfsTer3
NM_024675.4:c.1976_1977del MANE Select	NP_078951.2:p.Leu659GlnfsTer3