Canonical Allele Identifier: CA2732068393

Gene: PALB2

Linked Data

• dbSNP Id: rs2142372258

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629680del , CM000678.2:g.23629680del	GRCh38
NC_000016.9:g.23641001del , CM000678.1:g.23641001del	GRCh37
NC_000016.8:g.23548502del	NCBI36
NG_007406.1:g.16678del , LRG_308:g.16678del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2480del	ENSP00000460666.3:p.Arg827LysfsTer26
ENST00000565038.2:c.212-405del	ENSP00000459882.2:n.212-405del
ENST00000566069.6:c.2474del	ENSP00000459237.2:p.Arg825LysfsTer26
ENST00000697377.2:c.2480del	ENSP00000513286.2:p.Arg827LysfsTer26
ENST00000697379.2:c.2480del	ENSP00000513287.2:p.Arg827LysfsTer26
ENST00000561514.2:c.1589del	ENSP00000460666.2:p.Arg530LysfsTer26
ENST00000697374.1:c.1589del	ENSP00000513284.1:p.Arg530LysfsTer26
ENST00000697375.1:n.3821del
ENST00000697376.1:c.1589del	ENSP00000513285.1:p.Arg530LysfsTer26
ENST00000697377.1:c.1589del	ENSP00000513286.1:p.Arg530LysfsTer26
ENST00000697378.1:n.2994del
ENST00000697379.1:c.1589del	ENSP00000513287.1:p.Arg530LysfsTer26
ENST00000697380.1:n.1402del
ENST00000697381.1:n.1169del
ENST00000697382.1:c.1589del	ENSP00000513288.1:p.Arg530LysfsTer26
ENST00000697383.1:c.49-405del	ENSP00000513289.1:n.49-405del
ENST00000697384.1:n.2628del
ENST00000261584.9:c.2474del MANE Select	ENSP00000261584.4:p.Arg825LysfsTer26
ENST00000261584.8:c.2474del	ENSP00000261584.4:p.Arg825LysfsTer26
ENST00000565038.1:c.87-405del
ENST00000568219.5:c.1589del	ENSP00000454703.2:p.Arg530LysfsTer26
NM_024675.3:c.2474del , LRG_308t1:c.2474del	NP_078951.2:p.Arg825LysfsTer26
XM_011545946.1:c.2480del	XP_011544248.1:p.Arg827LysfsTer26
XM_011545947.1:c.2480del	XP_011544249.1:p.Arg827LysfsTer26
XM_011545948.1:c.1589del	XP_011544250.1:p.Arg530LysfsTer26
XR_950851.1:n.3270del
XM_011545946.2:c.2480del	XP_011544248.1:p.Arg827LysfsTer26
XM_011545947.2:c.2480del	XP_011544249.1:p.Arg827LysfsTer26
XM_011545948.2:c.1589del	XP_011544250.1:p.Arg530LysfsTer26
XM_017023671.1:c.2480del	XP_016879160.1:p.Arg827LysfsTer26
XM_017023672.2:c.2474del	XP_016879161.1:p.Arg825LysfsTer26
XM_017023673.2:c.2474del	XP_016879162.1:p.Arg825LysfsTer26
NM_024675.4:c.2474del MANE Select	NP_078951.2:p.Arg825LysfsTer26