Canonical Allele Identifier: CA2580091334
Community Standard Title: NM_024675.4(PALB2):c.885_886del (p.Lys295AsnfsTer7)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635665_23635666del , CM000678.2:g.23635665_23635666del GRCh38
NC_000016.9:g.23646986_23646987del , CM000678.1:g.23646986_23646987del GRCh37
NC_000016.8:g.23554487_23554488del NCBI36
NG_007406.1:g.10697_10698del , LRG_308:g.10697_10698del

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.885_886del MANE Select NP_078951.2:p.Lys295AsnfsTer7
ENST00000261584.9:c.885_886del MANE Select ENSP00000261584.4:p.Lys295AsnfsTer7
NM_024675.3:c.885_886del , LRG_308t1:c.885_886del NP_078951.2:p.Lys295AsnfsTer7
ENST00000261584.8:c.885_886del ENSP00000261584.4:p.Lys295AsnfsTer7
ENST00000561514.2:c.-1_1del ENSP00000460666.2:n.-1_1del
ENST00000561514.3:c.891_892del ENSP00000460666.3:p.Lys297AsnfsTer7
ENST00000565038.1:c.86+2189_86+2190del
ENST00000565038.2:c.211+2189_211+2190del ENSP00000459882.2:n.211+2189_211+2190del
ENST00000566069.6:c.885_886del ENSP00000459237.2:p.Lys295AsnfsTer7
ENST00000568219.5:c.-1_1del ENSP00000454703.2:n.-1_1del
ENST00000697374.1:c.-1_1del ENSP00000513284.1:n.-1_1del
ENST00000697375.1:n.2232_2233del
ENST00000697376.1:c.-1_1del ENSP00000513285.1:n.-1_1del
ENST00000697377.1:c.-1_1del ENSP00000513286.1:n.-1_1del
ENST00000697377.2:c.891_892del ENSP00000513286.2:p.Lys297AsnfsTer7
ENST00000697378.1:n.1405_1406del
ENST00000697379.1:c.-1_1del ENSP00000513287.1:n.-1_1del
ENST00000697379.2:c.891_892del ENSP00000513287.2:p.Lys297AsnfsTer7
ENST00000697382.1:c.-1_1del ENSP00000513288.1:n.-1_1del
ENST00000697383.1:c.48+5449_48+5450del ENSP00000513289.1:n.48+5449_48+5450del
ENST00000697384.1:n.1039_1040del
XM_011545946.1:c.891_892del XP_011544248.1:p.Lys297AsnfsTer7
XM_011545946.2:c.891_892del XP_011544248.1:p.Lys297AsnfsTer7
XM_011545947.1:c.891_892del XP_011544249.1:p.Lys297AsnfsTer7
XM_011545947.2:c.891_892del XP_011544249.1:p.Lys297AsnfsTer7
XM_011545948.1:c.-1_1del XP_011544250.1:n.-1_1del
XM_011545948.2:c.-1_1del XP_011544250.1:n.-1_1del
XM_017023671.1:c.891_892del XP_016879160.1:p.Lys297AsnfsTer7
XM_017023672.2:c.885_886del XP_016879161.1:p.Lys295AsnfsTer7
XM_017023673.2:c.885_886del XP_016879162.1:p.Lys295AsnfsTer7
XR_950851.1:n.1681_1682del