Canonical Allele Identifier: CA3252639074
Community Standard Title: NM_024675.4(PALB2):c.135_137del (p.Lys45_His46delinsAsn)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637925_23637927del , CM000678.2:g.23637925_23637927del GRCh38
NC_000016.9:g.23649246_23649248del , CM000678.1:g.23649246_23649248del GRCh37
NC_000016.8:g.23556747_23556749del NCBI36
NG_007406.1:g.8432_8434del , LRG_308:g.8432_8434del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.135_137del MANE Select NP_078951.2:p.Lys45_His46delinsAsn
ENST00000261584.9:c.135_137del MANE Select ENSP00000261584.4:p.Lys45_His46delinsAsn
NM_024675.3:c.135_137del , LRG_308t1:c.135_137del NP_078951.2:p.Lys45_His46delinsAsn
ENST00000261584.8:c.135_137del ENSP00000261584.4:p.Lys45_His46delinsAsn
ENST00000561514.1:c.141_143del ENSP00000460666.1:p.Lys47_His48delinsAsn
ENST00000561514.2:c.-751_-749del ENSP00000460666.2:n.-751_-749del
ENST00000561514.3:c.141_143del ENSP00000460666.3:p.Lys47_His48delinsAsn
ENST00000565038.1:c.10_12del
ENST00000565038.2:c.135_137del ENSP00000459882.2:p.Lys45_His46delinsAsn
ENST00000566069.6:c.135_137del ENSP00000459237.2:p.Lys45_His46delinsAsn
ENST00000567003.1:n.413_415del
ENST00000568219.5:c.-751_-749del ENSP00000454703.2:n.-751_-749del
ENST00000697374.1:c.-751_-749del ENSP00000513284.1:n.-751_-749del
ENST00000697375.1:n.1482_1484del
ENST00000697376.1:c.-751_-749del ENSP00000513285.1:n.-751_-749del
ENST00000697377.1:c.-751_-749del ENSP00000513286.1:n.-751_-749del
ENST00000697377.2:c.141_143del ENSP00000513286.2:p.Lys47_His48delinsAsn
ENST00000697378.1:n.655_657del
ENST00000697379.1:c.-751_-749del ENSP00000513287.1:n.-751_-749del
ENST00000697379.2:c.141_143del ENSP00000513287.2:p.Lys47_His48delinsAsn
ENST00000697382.1:c.-751_-749del ENSP00000513288.1:n.-751_-749del
ENST00000697383.1:c.48+3184_48+3186del ENSP00000513289.1:n.48+3184_48+3186del
ENST00000697384.1:n.289_291del
XM_011545946.1:c.141_143del XP_011544248.1:p.Lys47_His48delinsAsn
XM_011545946.2:c.141_143del XP_011544248.1:p.Lys47_His48delinsAsn
XM_011545947.1:c.141_143del XP_011544249.1:p.Lys47_His48delinsAsn
XM_011545947.2:c.141_143del XP_011544249.1:p.Lys47_His48delinsAsn
XM_011545948.1:c.-751_-749del XP_011544250.1:n.-751_-749del
XM_011545948.2:c.-751_-749del XP_011544250.1:n.-751_-749del
XM_017023671.1:c.141_143del XP_016879160.1:p.Lys47_His48delinsAsn
XM_017023672.2:c.135_137del XP_016879161.1:p.Lys45_His46delinsAsn
XM_017023673.2:c.135_137del XP_016879162.1:p.Lys45_His46delinsAsn
XR_950851.1:n.931_933del