Canonical Allele Identifier: CA2213433804
Community Standard Title: NM_024675.4(PALB2):c.172_176delinsTTGTC (p.Leu58=)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637885_23637889delinsGACAA , CM000678.2:g.23637885_23637889delinsGACAA GRCh38
NC_000016.9:g.23649206_23649210delinsGACAA , CM000678.1:g.23649206_23649210delinsGACAA GRCh37
NC_000016.8:g.23556707_23556711delinsGACAA NCBI36
NG_007406.1:g.8469_8473delinsTTGTC , LRG_308:g.8469_8473delinsTTGTC

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.172_176delinsTTGTC MANE Select NP_078951.2:p.Leu58=
ENST00000261584.9:c.172_176delinsTTGTC MANE Select ENSP00000261584.4:p.Leu58=
NM_024675.3:c.172_176delinsTTGTC , LRG_308t1:c.172_176delinsTTGTC NP_078951.2:p.Leu58=
ENST00000261584.8:c.172_176delinsTTGTC ENSP00000261584.4:p.Leu58=
ENST00000561514.1:c.178_182delinsTTGTC ENSP00000460666.1:p.Leu60=
ENST00000561514.2:c.-714_-710delinsTTGTC ENSP00000460666.2:n.-714_-710delinsTTGTC
ENST00000561514.3:c.178_182delinsTTGTC ENSP00000460666.3:p.Leu60=
ENST00000565038.1:c.47_51delinsTTGTC
ENST00000565038.2:c.172_176delinsTTGTC ENSP00000459882.2:p.Leu58=
ENST00000566069.6:c.172_176delinsTTGTC ENSP00000459237.2:p.Leu58=
ENST00000567003.1:n.450_454delinsTTGTC
ENST00000568219.5:c.-714_-710delinsTTGTC ENSP00000454703.2:n.-714_-710delinsTTGTC
ENST00000697374.1:c.-714_-710delinsTTGTC ENSP00000513284.1:n.-714_-710delinsTTGTC
ENST00000697375.1:n.1519_1523delinsTTGTC
ENST00000697376.1:c.-714_-710delinsTTGTC ENSP00000513285.1:n.-714_-710delinsTTGTC
ENST00000697377.1:c.-714_-710delinsTTGTC ENSP00000513286.1:n.-714_-710delinsTTGTC
ENST00000697377.2:c.178_182delinsTTGTC ENSP00000513286.2:p.Leu60=
ENST00000697378.1:n.692_696delinsTTGTC
ENST00000697379.1:c.-714_-710delinsTTGTC ENSP00000513287.1:n.-714_-710delinsTTGTC
ENST00000697379.2:c.178_182delinsTTGTC ENSP00000513287.2:p.Leu60=
ENST00000697382.1:c.-714_-710delinsTTGTC ENSP00000513288.1:n.-714_-710delinsTTGTC
ENST00000697383.1:c.48+3221_48+3225delinsTTGTC ENSP00000513289.1:n.48+3221_48+3225delinsTTGTC
ENST00000697384.1:n.326_330delinsTTGTC
XM_011545946.1:c.178_182delinsTTGTC XP_011544248.1:p.Leu60=
XM_011545946.2:c.178_182delinsTTGTC XP_011544248.1:p.Leu60=
XM_011545947.1:c.178_182delinsTTGTC XP_011544249.1:p.Leu60=
XM_011545947.2:c.178_182delinsTTGTC XP_011544249.1:p.Leu60=
XM_011545948.1:c.-714_-710delinsTTGTC XP_011544250.1:n.-714_-710delinsTTGTC
XM_011545948.2:c.-714_-710delinsTTGTC XP_011544250.1:n.-714_-710delinsTTGTC
XM_017023671.1:c.178_182delinsTTGTC XP_016879160.1:p.Leu60=
XM_017023672.2:c.172_176delinsTTGTC XP_016879161.1:p.Leu58=
XM_017023673.2:c.172_176delinsTTGTC XP_016879162.1:p.Leu58=
XR_950851.1:n.968_972delinsTTGTC