Canonical Allele Identifier: CA395141028

Gene: PALB2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641115C>T , CM000678.2:g.23641115C>T	GRCh38
NC_000016.9:g.23652436C>T , CM000678.1:g.23652436C>T	GRCh37
NC_000016.8:g.23559937C>T	NCBI36
NG_007406.1:g.5243G>A , LRG_308:g.5243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-810G>A	ENSP00000460666.3:n.-810G>A
ENST00000565038.2:c.43G>A	ENSP00000459882.2:p.Glu15Lys
ENST00000566069.6:c.43G>A	ENSP00000459237.2:p.Glu15Lys
ENST00000697377.2:c.-197G>A	ENSP00000513286.2:n.-197G>A
ENST00000697379.2:c.-103G>A	ENSP00000513287.2:n.-103G>A
ENST00000561514.2:c.-1701G>A	ENSP00000460666.2:n.-1701G>A
ENST00000697374.1:c.-1292G>A	ENSP00000513284.1:n.-1292G>A
ENST00000697376.1:c.-1013G>A	ENSP00000513285.1:n.-1013G>A
ENST00000697377.1:c.-1088G>A	ENSP00000513286.1:n.-1088G>A
ENST00000697379.1:c.-994G>A	ENSP00000513287.1:n.-994G>A
ENST00000697382.1:c.-1752G>A	ENSP00000513288.1:n.-1752G>A
ENST00000697383.1:c.43G>A	ENSP00000513289.1:p.Glu15Lys
ENST00000697384.1:n.197G>A
ENST00000261584.9:c.43G>A MANE Select	ENSP00000261584.4:p.Glu15Lys
ENST00000261584.8:c.43G>A	ENSP00000261584.4:p.Glu15Lys
ENST00000567003.1:n.187G>A
ENST00000568219.5:c.-838+12G>A	ENSP00000454703.2:n.-838+12G>A
NM_024675.3:c.43G>A , LRG_308t1:c.43G>A	NP_078951.2:p.Glu15Lys
XM_011545948.1:c.-977G>A	XP_011544250.1:n.-977G>A
XM_011545946.2:c.-810G>A	XP_011544248.1:n.-810G>A
XM_011545947.2:c.-810G>A	XP_011544249.1:n.-810G>A
XM_011545948.2:c.-977G>A	XP_011544250.1:n.-977G>A
XM_017023671.1:c.-810G>A	XP_016879160.1:n.-810G>A
XM_017023672.2:c.43G>A	XP_016879161.1:p.Glu15Lys
XM_017023673.2:c.43G>A	XP_016879162.1:p.Glu15Lys
NM_024675.4:c.43G>A MANE Select	NP_078951.2:p.Glu15Lys