Canonical Allele Identifier: CA2632330659

Gene: PALB2

Linked Data

• gnomAD v4: 16-23640983-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23640983G>A , CM000678.2:g.23640983G>A	GRCh38
NC_000016.9:g.23652304G>A , CM000678.1:g.23652304G>A	GRCh37
NC_000016.8:g.23559805G>A	NCBI36
NG_007406.1:g.5375C>T , LRG_308:g.5375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-678C>T	ENSP00000460666.3:n.-678C>T
ENST00000565038.2:c.48+127C>T	ENSP00000459882.2:n.48+127C>T
ENST00000566069.6:c.48+127C>T	ENSP00000459237.2:n.48+127C>T
ENST00000697377.2:c.-192+127C>T	ENSP00000513286.2:n.-192+127C>T
ENST00000697379.2:c.-98+127C>T	ENSP00000513287.2:n.-98+127C>T
ENST00000561514.2:c.-1569C>T	ENSP00000460666.2:n.-1569C>T
ENST00000697374.1:c.-1160C>T	ENSP00000513284.1:n.-1160C>T
ENST00000697376.1:c.-1008+127C>T	ENSP00000513285.1:n.-1008+127C>T
ENST00000697377.1:c.-1083+127C>T	ENSP00000513286.1:n.-1083+127C>T
ENST00000697379.1:c.-989+127C>T	ENSP00000513287.1:n.-989+127C>T
ENST00000697382.1:c.-1620C>T	ENSP00000513288.1:n.-1620C>T
ENST00000697383.1:c.48+127C>T	ENSP00000513289.1:n.48+127C>T
ENST00000697384.1:n.202+127C>T
ENST00000261584.9:c.48+127C>T MANE Select	ENSP00000261584.4:n.48+127C>T
ENST00000261584.8:c.48+127C>T	ENSP00000261584.4:n.48+127C>T
ENST00000567003.1:n.192+127C>T
ENST00000568219.5:c.-838+144C>T	ENSP00000454703.2:n.-838+144C>T
NM_024675.3:c.48+127C>T , LRG_308t1:c.48+127C>T	NP_078951.2:n.48+127C>T
XM_011545946.1:c.-678C>T	XP_011544248.1:n.-678C>T
XM_011545947.1:c.-678C>T	XP_011544249.1:n.-678C>T
XM_011545948.1:c.-972+127C>T	XP_011544250.1:n.-972+127C>T
XR_950851.1:n.113C>T
XM_011545946.2:c.-678C>T	XP_011544248.1:n.-678C>T
XM_011545947.2:c.-678C>T	XP_011544249.1:n.-678C>T
XM_011545948.2:c.-972+127C>T	XP_011544250.1:n.-972+127C>T
XM_017023671.1:c.-678C>T	XP_016879160.1:n.-678C>T
XM_017023672.2:c.48+127C>T	XP_016879161.1:n.48+127C>T
XM_017023673.2:c.48+127C>T	XP_016879162.1:n.48+127C>T
NM_024675.4:c.48+127C>T MANE Select	NP_078951.2:n.48+127C>T