Canonical Allele Identifier: CA395139966

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23638123C>A , CM000678.2:g.23638123C>A	GRCh38
NC_000016.9:g.23649444C>A , CM000678.1:g.23649444C>A	GRCh37
NC_000016.8:g.23556945C>A	NCBI36
NG_007406.1:g.8235G>T , LRG_308:g.8235G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024675.4:c.55G>T MANE Select	NP_078951.2:p.Glu19Ter
ENST00000261584.9:c.55G>T MANE Select	ENSP00000261584.4:p.Glu19Ter
NM_024675.3:c.55G>T , LRG_308t1:c.55G>T	NP_078951.2:p.Glu19Ter
ENST00000261584.8:c.55G>T	ENSP00000261584.4:p.Glu19Ter
ENST00000561514.1:c.61G>T	ENSP00000460666.1:p.Glu21Ter
ENST00000561514.2:c.-831G>T	ENSP00000460666.2:n.-831G>T
ENST00000561514.3:c.61G>T	ENSP00000460666.3:p.Glu21Ter
ENST00000565038.2:c.55G>T	ENSP00000459882.2:p.Glu19Ter
ENST00000566069.6:c.55G>T	ENSP00000459237.2:p.Glu19Ter
ENST00000567003.1:n.333G>T
ENST00000568219.5:c.-831G>T	ENSP00000454703.2:n.-831G>T
ENST00000697374.1:c.-831G>T	ENSP00000513284.1:n.-831G>T
ENST00000697375.1:n.1402G>T
ENST00000697376.1:c.-867G>T	ENSP00000513285.1:n.-867G>T
ENST00000697377.1:c.-831G>T	ENSP00000513286.1:n.-831G>T
ENST00000697377.2:c.61G>T	ENSP00000513286.2:p.Glu21Ter
ENST00000697378.1:n.575G>T
ENST00000697379.1:c.-831G>T	ENSP00000513287.1:n.-831G>T
ENST00000697379.2:c.61G>T	ENSP00000513287.2:p.Glu21Ter
ENST00000697382.1:c.-831G>T	ENSP00000513288.1:n.-831G>T
ENST00000697383.1:c.48+2987G>T	ENSP00000513289.1:n.48+2987G>T
ENST00000697384.1:n.209G>T
XM_011545946.1:c.61G>T	XP_011544248.1:p.Glu21Ter
XM_011545946.2:c.61G>T	XP_011544248.1:p.Glu21Ter
XM_011545947.1:c.61G>T	XP_011544249.1:p.Glu21Ter
XM_011545947.2:c.61G>T	XP_011544249.1:p.Glu21Ter
XM_011545948.1:c.-831G>T	XP_011544250.1:n.-831G>T
XM_011545948.2:c.-831G>T	XP_011544250.1:n.-831G>T
XM_017023671.1:c.61G>T	XP_016879160.1:p.Glu21Ter
XM_017023672.2:c.55G>T	XP_016879161.1:p.Glu19Ter
XM_017023673.2:c.55G>T	XP_016879162.1:p.Glu19Ter
XR_950851.1:n.851G>T