Canonical Allele Identifier: CA2695222899
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23607916_23607917del , CM000678.2:g.23607916_23607917del GRCh38
NC_000016.9:g.23619237_23619238del , CM000678.1:g.23619237_23619238del GRCh37
NC_000016.8:g.23526738_23526739del NCBI36
NG_007406.1:g.38441_38442del , LRG_308:g.38441_38442del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3303_3304del ENSP00000460666.3:p.Thr1102SerfsTer22
ENST00000565038.2:c.*778_*779del ENSP00000459882.2:n.*778_*779del
ENST00000566069.6:c.3202-4248_3202-4247del ENSP00000459237.2:n.3202-4248_3202-4247del
ENST00000697377.2:c.3141_3142del ENSP00000513286.2:p.Thr1048SerfsTer22
ENST00000697379.2:c.3303_3304del ENSP00000513287.2:p.Thr1102SerfsTer22
ENST00000561514.2:c.2412_2413del ENSP00000460666.2:p.Thr805SerfsTer22
ENST00000697374.1:c.2412_2413del ENSP00000513284.1:p.Thr805SerfsTer22
ENST00000697375.1:n.4644_4645del
ENST00000697376.1:c.2317-4248_2317-4247del ENSP00000513285.1:n.2317-4248_2317-4247del
ENST00000697377.1:c.2250_2251del ENSP00000513286.1:p.Thr751SerfsTer22
ENST00000697378.1:n.3817_3818del
ENST00000697379.1:c.2412_2413del ENSP00000513287.1:p.Thr805SerfsTer22
ENST00000697380.1:n.2501_2502del
ENST00000697381.1:n.1992_1993del
ENST00000697382.1:c.*74_*75del ENSP00000513288.1:n.*74_*75del
ENST00000697383.1:c.831_832del ENSP00000513289.1:p.Thr278SerfsTer22
ENST00000261584.9:c.3297_3298del MANE Select ENSP00000261584.4:p.Thr1100SerfsTer22
ENST00000261584.8:c.3297_3298del ENSP00000261584.4:p.Thr1100SerfsTer22
ENST00000566069.5:c.117-4248_117-4247del
ENST00000568219.5:c.2412_2413del ENSP00000454703.2:p.Thr805SerfsTer22
NM_024675.3:c.3297_3298del , LRG_308t1:c.3297_3298del NP_078951.2:p.Thr1100SerfsTer22
XM_011545946.1:c.3303_3304del XP_011544248.1:p.Thr1102SerfsTer22
XM_011545947.1:c.3208-4248_3208-4247del XP_011544249.1:n.3208-4248_3208-4247del
XM_011545948.1:c.2412_2413del XP_011544250.1:p.Thr805SerfsTer22
XR_950851.1:n.4005_4006del
XM_011545946.2:c.3303_3304del XP_011544248.1:p.Thr1102SerfsTer22
XM_011545947.2:c.3208-4248_3208-4247del XP_011544249.1:n.3208-4248_3208-4247del
XM_011545948.2:c.2412_2413del XP_011544250.1:p.Thr805SerfsTer22
XM_017023671.1:c.3120-4248_3120-4247del XP_016879160.1:n.3120-4248_3120-4247del
XM_017023672.2:c.3114-4248_3114-4247del XP_016879161.1:n.3114-4248_3114-4247del
XM_017023673.2:c.3202-4248_3202-4247del XP_016879162.1:n.3202-4248_3202-4247del
NM_024675.4:c.3297_3298del MANE Select NP_078951.2:p.Thr1100SerfsTer22