Canonical Allele Identifier: CA2825002424

Gene: PALB2

Linked Data

• ClinVar Variation Id: 3148721
• ClinVar RCV Id: RCV004442615

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603568_23603574del , CM000678.2:g.23603568_23603574del	GRCh38
NC_000016.9:g.23614889_23614895del , CM000678.1:g.23614889_23614895del	GRCh37
NC_000016.8:g.23522390_23522396del	NCBI36
NG_007406.1:g.42787_42793del , LRG_308:g.42787_42793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3455_3461del	ENSP00000460666.3:p.Leu1152HisfsTer11
ENST00000565038.2:c.*934_*940del	ENSP00000459882.2:n.*934_*940del
ENST00000566069.6:c.*84_*90del	ENSP00000459237.2:n.*84_*90del
ENST00000697377.2:c.3293_3299del	ENSP00000513286.2:p.Leu1098HisfsTer11
ENST00000697379.2:c.3455_3461del	ENSP00000513287.2:p.Leu1152HisfsTer11
ENST00000561514.2:c.2564_2570del	ENSP00000460666.2:p.Leu855HisfsTer11
ENST00000697374.1:c.2564_2570del	ENSP00000513284.1:p.Leu855HisfsTer11
ENST00000697375.1:n.4796_4802del
ENST00000697376.1:c.*84_*90del	ENSP00000513285.1:n.*84_*90del
ENST00000697377.1:c.2402_2408del	ENSP00000513286.1:p.Leu801HisfsTer11
ENST00000697378.1:n.3969_3975del
ENST00000697379.1:c.2564_2570del	ENSP00000513287.1:p.Leu855HisfsTer11
ENST00000697380.1:n.2653_2659del
ENST00000697381.1:n.2144_2150del
ENST00000697382.1:c.*226_*232del	ENSP00000513288.1:n.*226_*232del
ENST00000697383.1:c.983_989del	ENSP00000513289.1:p.Leu328HisfsTer11
ENST00000261584.9:c.3449_3455del MANE Select	ENSP00000261584.4:p.Leu1150HisfsTer11
ENST00000261584.8:c.3449_3455del	ENSP00000261584.4:p.Leu1150HisfsTer11
ENST00000566069.5:c.215_221del
ENST00000568219.5:c.2564_2570del	ENSP00000454703.2:p.Leu855HisfsTer11
NM_024675.3:c.3449_3455del , LRG_308t1:c.3449_3455del	NP_078951.2:p.Leu1150HisfsTer11
XM_011545946.1:c.3455_3461del	XP_011544248.1:p.Leu1152HisfsTer11
XM_011545947.1:c.*84_*90del	XP_011544249.1:n.*84_*90del
XM_011545948.1:c.2564_2570del	XP_011544250.1:p.Leu855HisfsTer11
XR_950851.1:n.4157_4163del
XM_011545946.2:c.3455_3461del	XP_011544248.1:p.Leu1152HisfsTer11
XM_011545947.2:c.*84_*90del	XP_011544249.1:n.*84_*90del
XM_011545948.2:c.2564_2570del	XP_011544250.1:p.Leu855HisfsTer11
XM_017023671.1:c.3218_3224del	XP_016879160.1:p.Leu1073HisfsTer11
XM_017023672.2:c.3212_3218del	XP_016879161.1:p.Leu1071HisfsTer11
XM_017023673.2:c.*84_*90del	XP_016879162.1:n.*84_*90del
NM_024675.4:c.3449_3455del MANE Select	NP_078951.2:p.Leu1150HisfsTer11