Canonical Allele Identifier: CA395141056
Community Standard Title: NM_024675.4(PALB2):c.37G>T (p.Glu13Ter)
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23641121C>A , CM000678.2:g.23641121C>A GRCh38
NC_000016.9:g.23652442C>A , CM000678.1:g.23652442C>A GRCh37
NC_000016.8:g.23559943C>A NCBI36
NG_007406.1:g.5237G>T , LRG_308:g.5237G>T

Transcript Alleles

HGVS Amino-acid Change
NM_024675.4:c.37G>T MANE Select NP_078951.2:p.Glu13Ter
ENST00000261584.9:c.37G>T MANE Select ENSP00000261584.4:p.Glu13Ter
NM_024675.3:c.37G>T , LRG_308t1:c.37G>T NP_078951.2:p.Glu13Ter
ENST00000261584.8:c.37G>T ENSP00000261584.4:p.Glu13Ter
ENST00000561514.2:c.-1707G>T ENSP00000460666.2:n.-1707G>T
ENST00000561514.3:c.-816G>T ENSP00000460666.3:n.-816G>T
ENST00000565038.2:c.37G>T ENSP00000459882.2:p.Glu13Ter
ENST00000566069.6:c.37G>T ENSP00000459237.2:p.Glu13Ter
ENST00000567003.1:n.181G>T
ENST00000568219.5:c.-838+6G>T ENSP00000454703.2:n.-838+6G>T
ENST00000697374.1:c.-1298G>T ENSP00000513284.1:n.-1298G>T
ENST00000697376.1:c.-1019G>T ENSP00000513285.1:n.-1019G>T
ENST00000697377.1:c.-1094G>T ENSP00000513286.1:n.-1094G>T
ENST00000697377.2:c.-203G>T ENSP00000513286.2:n.-203G>T
ENST00000697379.1:c.-1000G>T ENSP00000513287.1:n.-1000G>T
ENST00000697379.2:c.-109G>T ENSP00000513287.2:n.-109G>T
ENST00000697382.1:c.-1758G>T ENSP00000513288.1:n.-1758G>T
ENST00000697383.1:c.37G>T ENSP00000513289.1:p.Glu13Ter
ENST00000697384.1:n.191G>T
XM_011545946.2:c.-816G>T XP_011544248.1:n.-816G>T
XM_011545947.2:c.-816G>T XP_011544249.1:n.-816G>T
XM_011545948.1:c.-983G>T XP_011544250.1:n.-983G>T
XM_011545948.2:c.-983G>T XP_011544250.1:n.-983G>T
XM_017023671.1:c.-816G>T XP_016879160.1:n.-816G>T
XM_017023672.2:c.37G>T XP_016879161.1:p.Glu13Ter
XM_017023673.2:c.37G>T XP_016879162.1:p.Glu13Ter