Canonical Allele Identifier: CA2573152178

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1457322
• ClinVar RCV Id: RCV001953698 ; RCV002386820

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635167_23635168delinsCA , CM000678.2:g.23635167_23635168delinsCA	GRCh38
NC_000016.9:g.23646488_23646489delinsCA , CM000678.1:g.23646488_23646489delinsCA	GRCh37
NC_000016.8:g.23553989_23553990delinsCA	NCBI36
NG_007406.1:g.11190_11191delinsTG , LRG_308:g.11190_11191delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1384_1385delinsTG	ENSP00000460666.3:p.Gln462Ter
ENST00000565038.2:c.211+2682_211+2683delinsTG	ENSP00000459882.2:n.211+2682_211+2683delinsTG
ENST00000566069.6:c.1378_1379delinsTG	ENSP00000459237.2:p.Gln460Ter
ENST00000697377.2:c.1384_1385delinsTG	ENSP00000513286.2:p.Gln462Ter
ENST00000697379.2:c.1384_1385delinsTG	ENSP00000513287.2:p.Gln462Ter
ENST00000561514.2:c.493_494delinsTG	ENSP00000460666.2:p.Gln165Ter
ENST00000697374.1:c.493_494delinsTG	ENSP00000513284.1:p.Gln165Ter
ENST00000697375.1:n.2725_2726delinsTG
ENST00000697376.1:c.493_494delinsTG	ENSP00000513285.1:p.Gln165Ter
ENST00000697377.1:c.493_494delinsTG	ENSP00000513286.1:p.Gln165Ter
ENST00000697378.1:n.1898_1899delinsTG
ENST00000697379.1:c.493_494delinsTG	ENSP00000513287.1:p.Gln165Ter
ENST00000697382.1:c.493_494delinsTG	ENSP00000513288.1:p.Gln165Ter
ENST00000697383.1:c.49-5893_49-5892delinsTG	ENSP00000513289.1:n.49-5893_49-5892delinsTG
ENST00000697384.1:n.1532_1533delinsTG
ENST00000261584.9:c.1378_1379delinsTG MANE Select	ENSP00000261584.4:p.Gln460Ter
ENST00000261584.8:c.1378_1379delinsTG	ENSP00000261584.4:p.Gln460Ter
ENST00000565038.1:c.86+2682_86+2683delinsTG
ENST00000568219.5:c.493_494delinsTG	ENSP00000454703.2:p.Gln165Ter
NM_024675.3:c.1378_1379delinsTG , LRG_308t1:c.1378_1379delinsTG	NP_078951.2:p.Gln460Ter
XM_011545946.1:c.1384_1385delinsTG	XP_011544248.1:p.Gln462Ter
XM_011545947.1:c.1384_1385delinsTG	XP_011544249.1:p.Gln462Ter
XM_011545948.1:c.493_494delinsTG	XP_011544250.1:p.Gln165Ter
XR_950851.1:n.2174_2175delinsTG
XM_011545946.2:c.1384_1385delinsTG	XP_011544248.1:p.Gln462Ter
XM_011545947.2:c.1384_1385delinsTG	XP_011544249.1:p.Gln462Ter
XM_011545948.2:c.493_494delinsTG	XP_011544250.1:p.Gln165Ter
XM_017023671.1:c.1384_1385delinsTG	XP_016879160.1:p.Gln462Ter
XM_017023672.2:c.1378_1379delinsTG	XP_016879161.1:p.Gln460Ter
XM_017023673.2:c.1378_1379delinsTG	XP_016879162.1:p.Gln460Ter
NM_024675.4:c.1378_1379delinsTG MANE Select	NP_078951.2:p.Gln460Ter