Canonical Allele Identifier: CA2695197571

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2673852
• ClinVar RCV Id: RCV003450469

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603621_23603628dup , CM000678.2:g.23603621_23603628dup	GRCh38
NC_000016.9:g.23614942_23614949dup , CM000678.1:g.23614942_23614949dup	GRCh37
NC_000016.8:g.23522443_23522450dup	NCBI36
NG_007406.1:g.42733_42740dup , LRG_308:g.42733_42740dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3401_3408dup	ENSP00000460666.3:p.Gly1137Ter
ENST00000565038.2:c.*880_*887dup	ENSP00000459882.2:n.*880_*887dup
ENST00000566069.6:c.*30_*37dup	ENSP00000459237.2:n.*30_*37dup
ENST00000697377.2:c.3239_3246dup	ENSP00000513286.2:p.Gly1083Ter
ENST00000697379.2:c.3401_3408dup	ENSP00000513287.2:p.Gly1137Ter
ENST00000561514.2:c.2510_2517dup	ENSP00000460666.2:p.Gly840Ter
ENST00000697374.1:c.2510_2517dup	ENSP00000513284.1:p.Gly840Ter
ENST00000697375.1:n.4742_4749dup
ENST00000697376.1:c.*30_*37dup	ENSP00000513285.1:n.*30_*37dup
ENST00000697377.1:c.2348_2355dup	ENSP00000513286.1:p.Gly786Ter
ENST00000697378.1:n.3915_3922dup
ENST00000697379.1:c.2510_2517dup	ENSP00000513287.1:p.Gly840Ter
ENST00000697380.1:n.2599_2606dup
ENST00000697381.1:n.2090_2097dup
ENST00000697382.1:c.*172_*179dup	ENSP00000513288.1:n.*172_*179dup
ENST00000697383.1:c.929_936dup	ENSP00000513289.1:p.Gly313Ter
ENST00000261584.9:c.3395_3402dup MANE Select	ENSP00000261584.4:p.Gly1135Ter
ENST00000261584.8:c.3395_3402dup	ENSP00000261584.4:p.Gly1135Ter
ENST00000566069.5:c.161_168dup
ENST00000568219.5:c.2510_2517dup	ENSP00000454703.2:p.Gly840Ter
NM_024675.3:c.3395_3402dup , LRG_308t1:c.3395_3402dup	NP_078951.2:p.Gly1135Ter
XM_011545946.1:c.3401_3408dup	XP_011544248.1:p.Gly1137Ter
XM_011545947.1:c.*30_*37dup	XP_011544249.1:n.*30_*37dup
XM_011545948.1:c.2510_2517dup	XP_011544250.1:p.Gly840Ter
XR_950851.1:n.4103_4110dup
XM_011545946.2:c.3401_3408dup	XP_011544248.1:p.Gly1137Ter
XM_011545947.2:c.*30_*37dup	XP_011544249.1:n.*30_*37dup
XM_011545948.2:c.2510_2517dup	XP_011544250.1:p.Gly840Ter
XM_017023671.1:c.3164_3171dup	XP_016879160.1:p.Gly1058Ter
XM_017023672.2:c.3158_3165dup	XP_016879161.1:p.Gly1056Ter
XM_017023673.2:c.*30_*37dup	XP_016879162.1:n.*30_*37dup
NM_024675.4:c.3395_3402dup MANE Select	NP_078951.2:p.Gly1135Ter