Canonical Allele Identifier: CA2580611857
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629795_23630103del , CM000678.2:g.23629795_23630103del GRCh38
NC_000016.9:g.23641116_23641424del , CM000678.1:g.23641116_23641424del GRCh37
NC_000016.8:g.23548617_23548925del NCBI36
NG_007406.1:g.16258_16566del , LRG_308:g.16258_16566del

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2060_2368del ENSP00000460666.3:p.Lys687_Thr789del
ENST00000565038.2:c.212-825_212-517del ENSP00000459882.2:n.212-825_212-517del
ENST00000566069.6:c.2054_2362del ENSP00000459237.2:p.Lys685_Thr787del
ENST00000697377.2:c.2060_2368del ENSP00000513286.2:p.Lys687_Thr789del
ENST00000697379.2:c.2060_2368del ENSP00000513287.2:p.Lys687_Thr789del
ENST00000561514.2:c.1169_1477del ENSP00000460666.2:p.Lys390_Thr492del
ENST00000697374.1:c.1169_1477del ENSP00000513284.1:p.Lys390_Thr492del
ENST00000697375.1:n.3401_3709del
ENST00000697376.1:c.1169_1477del ENSP00000513285.1:p.Lys390_Thr492del
ENST00000697377.1:c.1169_1477del ENSP00000513286.1:p.Lys390_Thr492del
ENST00000697378.1:n.2574_2882del
ENST00000697379.1:c.1169_1477del ENSP00000513287.1:p.Lys390_Thr492del
ENST00000697380.1:n.982_1290del
ENST00000697381.1:n.749_1057del
ENST00000697382.1:c.1169_1477del ENSP00000513288.1:p.Lys390_Thr492del
ENST00000697383.1:c.49-825_49-517del ENSP00000513289.1:n.49-825_49-517del
ENST00000697384.1:n.2208_2516del
ENST00000261584.9:c.2054_2362del MANE Select ENSP00000261584.4:p.Lys685_Thr787del
ENST00000261584.8:c.2054_2362del ENSP00000261584.4:p.Lys685_Thr787del
ENST00000565038.1:c.87-825_87-517del
ENST00000568219.5:c.1169_1477del ENSP00000454703.2:p.Lys390_Thr492del
NM_024675.3:c.2054_2362del , LRG_308t1:c.2054_2362del NP_078951.2:p.Lys685_Thr787del
XM_011545946.1:c.2060_2368del XP_011544248.1:p.Lys687_Thr789del
XM_011545947.1:c.2060_2368del XP_011544249.1:p.Lys687_Thr789del
XM_011545948.1:c.1169_1477del XP_011544250.1:p.Lys390_Thr492del
XR_950851.1:n.2850_3158del
XM_011545946.2:c.2060_2368del XP_011544248.1:p.Lys687_Thr789del
XM_011545947.2:c.2060_2368del XP_011544249.1:p.Lys687_Thr789del
XM_011545948.2:c.1169_1477del XP_011544250.1:p.Lys390_Thr492del
XM_017023671.1:c.2060_2368del XP_016879160.1:p.Lys687_Thr789del
XM_017023672.2:c.2054_2362del XP_016879161.1:p.Lys685_Thr787del
XM_017023673.2:c.2054_2362del XP_016879162.1:p.Lys685_Thr787del
NM_024675.4:c.2054_2362del MANE Select NP_078951.2:p.Lys685_Thr787del