Canonical Allele Identifier: CA2732048999

Gene: PALB2

Linked Data

• dbSNP Id: rs2142255540

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603663del , CM000678.2:g.23603663del	GRCh38
NC_000016.9:g.23614984del , CM000678.1:g.23614984del	GRCh37
NC_000016.8:g.23522485del	NCBI36
NG_007406.1:g.42696del , LRG_308:g.42696del

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3364del	ENSP00000460666.3:p.Glu1122LysfsTer4
ENST00000565038.2:c.*843del	ENSP00000459882.2:n.*843del
ENST00000566069.6:c.3209del	ENSP00000459237.2:p.Gly1070GlufsTer?
ENST00000697377.2:c.3202del	ENSP00000513286.2:p.Glu1068LysfsTer4
ENST00000697379.2:c.3364del	ENSP00000513287.2:p.Glu1122LysfsTer4
ENST00000561514.2:c.2473del	ENSP00000460666.2:p.Glu825LysfsTer4
ENST00000697374.1:c.2473del	ENSP00000513284.1:p.Glu825LysfsTer4
ENST00000697375.1:n.4705del
ENST00000697376.1:c.2324del	ENSP00000513285.1:p.Gly775GlufsTer?
ENST00000697377.1:c.2311del	ENSP00000513286.1:p.Glu771LysfsTer4
ENST00000697378.1:n.3878del
ENST00000697379.1:c.2473del	ENSP00000513287.1:p.Glu825LysfsTer4
ENST00000697380.1:n.2562del
ENST00000697381.1:n.2053del
ENST00000697382.1:c.*135del	ENSP00000513288.1:n.*135del
ENST00000697383.1:c.892del	ENSP00000513289.1:p.Glu298LysfsTer4
ENST00000261584.9:c.3358del MANE Select	ENSP00000261584.4:p.Glu1120LysfsTer4
ENST00000261584.8:c.3358del	ENSP00000261584.4:p.Glu1120LysfsTer4
ENST00000566069.5:c.124del
ENST00000568219.5:c.2473del	ENSP00000454703.2:p.Glu825LysfsTer4
NM_024675.3:c.3358del , LRG_308t1:c.3358del	NP_078951.2:p.Glu1120LysfsTer4
XM_011545946.1:c.3364del	XP_011544248.1:p.Glu1122LysfsTer4
XM_011545947.1:c.3215del	XP_011544249.1:p.Gly1072GlufsTer?
XM_011545948.1:c.2473del	XP_011544250.1:p.Glu825LysfsTer4
XR_950851.1:n.4066del
XM_011545946.2:c.3364del	XP_011544248.1:p.Glu1122LysfsTer4
XM_011545947.2:c.3215del	XP_011544249.1:p.Gly1072GlufsTer?
XM_011545948.2:c.2473del	XP_011544250.1:p.Glu825LysfsTer4
XM_017023671.1:c.3127del	XP_016879160.1:p.Glu1043LysfsTer4
XM_017023672.2:c.3121del	XP_016879161.1:p.Glu1041LysfsTer4
XM_017023673.2:c.3209del	XP_016879162.1:p.Gly1070GlufsTer?
NM_024675.4:c.3358del MANE Select	NP_078951.2:p.Glu1120LysfsTer4