Canonical Allele Identifier: CA2213429474

Gene: PALB2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635501_23635504delinsTTTG , CM000678.2:g.23635501_23635504delinsTTTG	GRCh38
NC_000016.9:g.23646822_23646825delinsTTTG , CM000678.1:g.23646822_23646825delinsTTTG	GRCh37
NC_000016.8:g.23554323_23554326delinsTTTG	NCBI36
NG_007406.1:g.10854_10857delinsCAAA , LRG_308:g.10854_10857delinsCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1048_1051delinsCAAA	ENSP00000460666.3:p.Gln350=
ENST00000565038.2:c.211+2346_211+2349delinsCAAA	ENSP00000459882.2:n.211+2346_211+2349delinsCAAA
ENST00000566069.6:c.1042_1045delinsCAAA	ENSP00000459237.2:p.Gln348=
ENST00000697377.2:c.1048_1051delinsCAAA	ENSP00000513286.2:p.Gln350=
ENST00000697379.2:c.1048_1051delinsCAAA	ENSP00000513287.2:p.Gln350=
ENST00000561514.2:c.157_160delinsCAAA	ENSP00000460666.2:p.Gln53=
ENST00000697374.1:c.157_160delinsCAAA	ENSP00000513284.1:p.Gln53=
ENST00000697375.1:n.2389_2392delinsCAAA
ENST00000697376.1:c.157_160delinsCAAA	ENSP00000513285.1:p.Gln53=
ENST00000697377.1:c.157_160delinsCAAA	ENSP00000513286.1:p.Gln53=
ENST00000697378.1:n.1562_1565delinsCAAA
ENST00000697379.1:c.157_160delinsCAAA	ENSP00000513287.1:p.Gln53=
ENST00000697382.1:c.157_160delinsCAAA	ENSP00000513288.1:p.Gln53=
ENST00000697383.1:c.48+5606_48+5609delinsCAAA	ENSP00000513289.1:n.48+5606_48+5609delinsCAAA
ENST00000697384.1:n.1196_1199delinsCAAA
ENST00000261584.9:c.1042_1045delinsCAAA MANE Select	ENSP00000261584.4:p.Gln348=
ENST00000261584.8:c.1042_1045delinsCAAA	ENSP00000261584.4:p.Gln348=
ENST00000565038.1:c.86+2346_86+2349delinsCAAA
ENST00000568219.5:c.157_160delinsCAAA	ENSP00000454703.2:p.Gln53=
NM_024675.3:c.1042_1045delinsCAAA , LRG_308t1:c.1042_1045delinsCAAA	NP_078951.2:p.Gln348=
XM_011545946.1:c.1048_1051delinsCAAA	XP_011544248.1:p.Gln350=
XM_011545947.1:c.1048_1051delinsCAAA	XP_011544249.1:p.Gln350=
XM_011545948.1:c.157_160delinsCAAA	XP_011544250.1:p.Gln53=
XR_950851.1:n.1838_1841delinsCAAA
XM_011545946.2:c.1048_1051delinsCAAA	XP_011544248.1:p.Gln350=
XM_011545947.2:c.1048_1051delinsCAAA	XP_011544249.1:p.Gln350=
XM_011545948.2:c.157_160delinsCAAA	XP_011544250.1:p.Gln53=
XM_017023671.1:c.1048_1051delinsCAAA	XP_016879160.1:p.Gln350=
XM_017023672.2:c.1042_1045delinsCAAA	XP_016879161.1:p.Gln348=
XM_017023673.2:c.1042_1045delinsCAAA	XP_016879162.1:p.Gln348=
NM_024675.4:c.1042_1045delinsCAAA MANE Select	NP_078951.2:p.Gln348=