Canonical Allele Identifier: CA395137923

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603526G>T , CM000678.2:g.23603526G>T	GRCh38
NC_000016.9:g.23614847G>T , CM000678.1:g.23614847G>T	GRCh37
NC_000016.8:g.23522348G>T	NCBI36
NG_007406.1:g.42832C>A , LRG_308:g.42832C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3500C>A	ENSP00000460666.3:p.Ser1167Ter
ENST00000565038.2:c.*979C>A	ENSP00000459882.2:n.*979C>A
ENST00000566069.6:c.*129C>A	ENSP00000459237.2:n.*129C>A
ENST00000697377.2:c.3338C>A	ENSP00000513286.2:p.Ser1113Ter
ENST00000697379.2:c.3500C>A	ENSP00000513287.2:p.Ser1167Ter
ENST00000561514.2:c.2609C>A	ENSP00000460666.2:p.Ser870Ter
ENST00000697374.1:c.2609C>A	ENSP00000513284.1:p.Ser870Ter
ENST00000697375.1:n.4841C>A
ENST00000697376.1:c.*129C>A	ENSP00000513285.1:n.*129C>A
ENST00000697377.1:c.2447C>A	ENSP00000513286.1:p.Ser816Ter
ENST00000697378.1:n.4014C>A
ENST00000697379.1:c.2609C>A	ENSP00000513287.1:p.Ser870Ter
ENST00000697380.1:n.2698C>A
ENST00000697381.1:n.2189C>A
ENST00000697382.1:c.*271C>A	ENSP00000513288.1:n.*271C>A
ENST00000697383.1:c.1028C>A	ENSP00000513289.1:p.Ser343Ter
ENST00000261584.9:c.3494C>A MANE Select	ENSP00000261584.4:p.Ser1165Ter
ENST00000261584.8:c.3494C>A	ENSP00000261584.4:p.Ser1165Ter
ENST00000566069.5:c.260C>A
ENST00000568219.5:c.2609C>A	ENSP00000454703.2:p.Ser870Ter
NM_024675.3:c.3494C>A , LRG_308t1:c.3494C>A	NP_078951.2:p.Ser1165Ter
XM_011545946.1:c.3500C>A	XP_011544248.1:p.Ser1167Ter
XM_011545947.1:c.*129C>A	XP_011544249.1:n.*129C>A
XM_011545948.1:c.2609C>A	XP_011544250.1:p.Ser870Ter
XR_950851.1:n.4202C>A
XM_011545946.2:c.3500C>A	XP_011544248.1:p.Ser1167Ter
XM_011545947.2:c.*129C>A	XP_011544249.1:n.*129C>A
XM_011545948.2:c.2609C>A	XP_011544250.1:p.Ser870Ter
XM_017023671.1:c.3263C>A	XP_016879160.1:p.Ser1088Ter
XM_017023672.2:c.3257C>A	XP_016879161.1:p.Ser1086Ter
XM_017023673.2:c.*129C>A	XP_016879162.1:n.*129C>A
NM_024675.4:c.3494C>A MANE Select	NP_078951.2:p.Ser1165Ter