Canonical Allele Identifier: CA621661716

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2674117
• ClinVar RCV Id: RCV003452313
• dbSNP Id: rs1567217128
• gnomAD v2: 16-23640969-CGGAATGTT-C
• gnomAD v4: 16-23629648-CGGAATGTT-C
• MyVariant Identifiers: chr16:g.23640970_23640977del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629649_23629656del , CM000678.2:g.23629649_23629656del	GRCh38
NC_000016.9:g.23640970_23640977del , CM000678.1:g.23640970_23640977del	GRCh37
NC_000016.8:g.23548471_23548478del	NCBI36
NG_007406.1:g.16702_16709del , LRG_308:g.16702_16709del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2504_2511del	ENSP00000460666.3:p.Lys835SerfsTer5
ENST00000565038.2:c.212-381_212-374del	ENSP00000459882.2:n.212-381_212-374del
ENST00000566069.6:c.2498_2505del	ENSP00000459237.2:p.Lys833SerfsTer5
ENST00000697377.2:c.2504_2511del	ENSP00000513286.2:p.Lys835SerfsTer5
ENST00000697379.2:c.2504_2511del	ENSP00000513287.2:p.Lys835SerfsTer5
ENST00000561514.2:c.1613_1620del	ENSP00000460666.2:p.Lys538SerfsTer5
ENST00000697374.1:c.1613_1620del	ENSP00000513284.1:p.Lys538SerfsTer5
ENST00000697375.1:n.3845_3852del
ENST00000697376.1:c.1613_1620del	ENSP00000513285.1:p.Lys538SerfsTer5
ENST00000697377.1:c.1613_1620del	ENSP00000513286.1:p.Lys538SerfsTer5
ENST00000697378.1:n.3018_3025del
ENST00000697379.1:c.1613_1620del	ENSP00000513287.1:p.Lys538SerfsTer5
ENST00000697380.1:n.1426_1433del
ENST00000697381.1:n.1193_1200del
ENST00000697382.1:c.1613_1620del	ENSP00000513288.1:p.Lys538SerfsTer5
ENST00000697383.1:c.49-381_49-374del	ENSP00000513289.1:n.49-381_49-374del
ENST00000697384.1:n.2652_2659del
ENST00000261584.9:c.2498_2505del MANE Select	ENSP00000261584.4:p.Lys833SerfsTer5
ENST00000261584.8:c.2498_2505del	ENSP00000261584.4:p.Lys833SerfsTer5
ENST00000565038.1:c.87-381_87-374del
ENST00000568219.5:c.1613_1620del	ENSP00000454703.2:p.Lys538SerfsTer5
NM_024675.3:c.2498_2505del , LRG_308t1:c.2498_2505del	NP_078951.2:p.Lys833SerfsTer5
XM_011545946.1:c.2504_2511del	XP_011544248.1:p.Lys835SerfsTer5
XM_011545947.1:c.2504_2511del	XP_011544249.1:p.Lys835SerfsTer5
XM_011545948.1:c.1613_1620del	XP_011544250.1:p.Lys538SerfsTer5
XR_950851.1:n.3294_3301del
XM_011545946.2:c.2504_2511del	XP_011544248.1:p.Lys835SerfsTer5
XM_011545947.2:c.2504_2511del	XP_011544249.1:p.Lys835SerfsTer5
XM_011545948.2:c.1613_1620del	XP_011544250.1:p.Lys538SerfsTer5
XM_017023671.1:c.2504_2511del	XP_016879160.1:p.Lys835SerfsTer5
XM_017023672.2:c.2498_2505del	XP_016879161.1:p.Lys833SerfsTer5
XM_017023673.2:c.2498_2505del	XP_016879162.1:p.Lys833SerfsTer5
NM_024675.4:c.2498_2505del MANE Select	NP_078951.2:p.Lys833SerfsTer5