Canonical Allele Identifier: CA3252639012
Community Standard Title: NM_024675.4(PALB2):c.139_141del (p.Ser47del)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637921_23637923del , CM000678.2:g.23637921_23637923del GRCh38
NC_000016.9:g.23649242_23649244del , CM000678.1:g.23649242_23649244del GRCh37
NC_000016.8:g.23556743_23556745del NCBI36
NG_007406.1:g.8436_8438del , LRG_308:g.8436_8438del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.139_141del MANE Select NP_078951.2:p.Ser47del
ENST00000261584.9:c.139_141del MANE Select ENSP00000261584.4:p.Ser47del
NM_024675.3:c.139_141del , LRG_308t1:c.139_141del NP_078951.2:p.Ser47del
ENST00000261584.8:c.139_141del ENSP00000261584.4:p.Ser47del
ENST00000561514.1:c.145_147del ENSP00000460666.1:p.Ser49del
ENST00000561514.2:c.-747_-745del ENSP00000460666.2:n.-747_-745del
ENST00000561514.3:c.145_147del ENSP00000460666.3:p.Ser49del
ENST00000565038.1:c.14_16del
ENST00000565038.2:c.139_141del ENSP00000459882.2:p.Ser47del
ENST00000566069.6:c.139_141del ENSP00000459237.2:p.Ser47del
ENST00000567003.1:n.417_419del
ENST00000568219.5:c.-747_-745del ENSP00000454703.2:n.-747_-745del
ENST00000697374.1:c.-747_-745del ENSP00000513284.1:n.-747_-745del
ENST00000697375.1:n.1486_1488del
ENST00000697376.1:c.-747_-745del ENSP00000513285.1:n.-747_-745del
ENST00000697377.1:c.-747_-745del ENSP00000513286.1:n.-747_-745del
ENST00000697377.2:c.145_147del ENSP00000513286.2:p.Ser49del
ENST00000697378.1:n.659_661del
ENST00000697379.1:c.-747_-745del ENSP00000513287.1:n.-747_-745del
ENST00000697379.2:c.145_147del ENSP00000513287.2:p.Ser49del
ENST00000697382.1:c.-747_-745del ENSP00000513288.1:n.-747_-745del
ENST00000697383.1:c.48+3188_48+3190del ENSP00000513289.1:n.48+3188_48+3190del
ENST00000697384.1:n.293_295del
XM_011545946.1:c.145_147del XP_011544248.1:p.Ser49del
XM_011545946.2:c.145_147del XP_011544248.1:p.Ser49del
XM_011545947.1:c.145_147del XP_011544249.1:p.Ser49del
XM_011545947.2:c.145_147del XP_011544249.1:p.Ser49del
XM_011545948.1:c.-747_-745del XP_011544250.1:n.-747_-745del
XM_011545948.2:c.-747_-745del XP_011544250.1:n.-747_-745del
XM_017023671.1:c.145_147del XP_016879160.1:p.Ser49del
XM_017023672.2:c.139_141del XP_016879161.1:p.Ser47del
XM_017023673.2:c.139_141del XP_016879162.1:p.Ser47del
XR_950851.1:n.935_937del