Canonical Allele Identifier: CA658658444
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636031_23636034del , CM000678.2:g.23636031_23636034del GRCh38
NC_000016.9:g.23647352_23647355del , CM000678.1:g.23647352_23647355del GRCh37
NC_000016.8:g.23554853_23554856del NCBI36
NG_007406.1:g.10326_10329del , LRG_308:g.10326_10329del

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.520_523del ENSP00000460666.3:p.Ser174GlyfsTer4
ENST00000565038.2:c.211+1818_211+1821del ENSP00000459882.2:n.211+1818_211+1821del
ENST00000566069.6:c.514_517del ENSP00000459237.2:p.Ser172GlyfsTer4
ENST00000697377.2:c.520_523del ENSP00000513286.2:p.Ser174GlyfsTer4
ENST00000697379.2:c.520_523del ENSP00000513287.2:p.Ser174GlyfsTer4
ENST00000561514.2:c.-372_-369del ENSP00000460666.2:n.-372_-369del
ENST00000697374.1:c.-372_-369del ENSP00000513284.1:n.-372_-369del
ENST00000697375.1:n.1861_1864del
ENST00000697376.1:c.-372_-369del ENSP00000513285.1:n.-372_-369del
ENST00000697377.1:c.-372_-369del ENSP00000513286.1:n.-372_-369del
ENST00000697378.1:n.1034_1037del
ENST00000697379.1:c.-372_-369del ENSP00000513287.1:n.-372_-369del
ENST00000697382.1:c.-372_-369del ENSP00000513288.1:n.-372_-369del
ENST00000697383.1:c.48+5078_48+5081del ENSP00000513289.1:n.48+5078_48+5081del
ENST00000697384.1:n.668_671del
ENST00000261584.9:c.514_517del MANE Select ENSP00000261584.4:p.Ser172GlyfsTer4
ENST00000261584.8:c.514_517del ENSP00000261584.4:p.Ser172GlyfsTer4
ENST00000565038.1:c.86+1818_86+1821del
ENST00000568219.5:c.-372_-369del ENSP00000454703.2:n.-372_-369del
NM_024675.3:c.514_517del , LRG_308t1:c.514_517del NP_078951.2:p.Ser172GlyfsTer4
XM_011545946.1:c.520_523del XP_011544248.1:p.Ser174GlyfsTer4
XM_011545947.1:c.520_523del XP_011544249.1:p.Ser174GlyfsTer4
XM_011545948.1:c.-372_-369del XP_011544250.1:n.-372_-369del
XR_950851.1:n.1310_1313del
XM_011545946.2:c.520_523del XP_011544248.1:p.Ser174GlyfsTer4
XM_011545947.2:c.520_523del XP_011544249.1:p.Ser174GlyfsTer4
XM_011545948.2:c.-372_-369del XP_011544250.1:n.-372_-369del
XM_017023671.1:c.520_523del XP_016879160.1:p.Ser174GlyfsTer4
XM_017023672.2:c.514_517del XP_016879161.1:p.Ser172GlyfsTer4
XM_017023673.2:c.514_517del XP_016879162.1:p.Ser172GlyfsTer4
NM_024675.4:c.514_517del MANE Select NP_078951.2:p.Ser172GlyfsTer4