Canonical Allele Identifier: CA3252639016
Community Standard Title: NM_024675.4(PALB2):c.3166_3168del (p.Gln1056del)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23614037_23614039del , CM000678.2:g.23614037_23614039del GRCh38
NC_000016.9:g.23625358_23625360del , CM000678.1:g.23625358_23625360del GRCh37
NC_000016.8:g.23532859_23532861del NCBI36
NG_007406.1:g.32319_32321del , LRG_308:g.32319_32321del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.3166_3168del MANE Select NP_078951.2:p.Gln1056del
ENST00000261584.9:c.3166_3168del MANE Select ENSP00000261584.4:p.Gln1056del
NM_024675.3:c.3166_3168del , LRG_308t1:c.3166_3168del NP_078951.2:p.Gln1056del
ENST00000261584.8:c.3166_3168del ENSP00000261584.4:p.Gln1056del
ENST00000561514.2:c.2281_2283del ENSP00000460666.2:p.Gln761del
ENST00000561514.3:c.3172_3174del ENSP00000460666.3:p.Gln1058del
ENST00000565038.2:c.*647_*649del ENSP00000459882.2:n.*647_*649del
ENST00000566069.5:c.81_83del
ENST00000566069.6:c.3166_3168del ENSP00000459237.2:p.Gln1056del
ENST00000568219.5:c.2281_2283del ENSP00000454703.2:p.Gln761del
ENST00000697374.1:c.2281_2283del ENSP00000513284.1:p.Gln761del
ENST00000697375.1:n.4513_4515del
ENST00000697376.1:c.2281_2283del ENSP00000513285.1:p.Gln761del
ENST00000697377.1:c.2119_2121del ENSP00000513286.1:p.Gln707del
ENST00000697377.2:c.3010_3012del ENSP00000513286.2:p.Gln1004del
ENST00000697378.1:n.3686_3688del
ENST00000697379.1:c.2281_2283del ENSP00000513287.1:p.Gln761del
ENST00000697379.2:c.3172_3174del ENSP00000513287.2:p.Gln1058del
ENST00000697380.1:n.2406-6027_2406-6025del
ENST00000697381.1:n.1861_1863del
ENST00000697382.1:c.2229-6027_2229-6025del ENSP00000513288.1:n.2229-6027_2229-6025del
ENST00000697383.1:c.700_702del ENSP00000513289.1:p.Gln234del
XM_011545946.1:c.3172_3174del XP_011544248.1:p.Gln1058del
XM_011545946.2:c.3172_3174del XP_011544248.1:p.Gln1058del
XM_011545947.1:c.3172_3174del XP_011544249.1:p.Gln1058del
XM_011545947.2:c.3172_3174del XP_011544249.1:p.Gln1058del
XM_011545948.1:c.2281_2283del XP_011544250.1:p.Gln761del
XM_011545948.2:c.2281_2283del XP_011544250.1:p.Gln761del
XM_017023671.1:c.3119+7323_3119+7325del XP_016879160.1:n.3119+7323_3119+7325del
XM_017023672.2:c.3113+7323_3113+7325del XP_016879161.1:n.3113+7323_3113+7325del
XM_017023673.2:c.3166_3168del XP_016879162.1:p.Gln1056del
XR_950851.1:n.3910-6027_3910-6025del